Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q34804508)
Watch
English
Genetics of epilepsy: current status and perspectives.
scientific article
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
review article
1 reference
stated in
Europe PubMed Central
title
Genetics of epilepsy: current status and perspectives
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
author
Motohiro Okada
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Kazuhiro Yamakawa
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Shinichi Hirose
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
author name string
Sunao Kaneko
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Hiroto Iwasa
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
publication date
1 September 2002
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
published in
Neuroscience Research
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
volume
44
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
page(s)
11-30
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
cites work
Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuraminidase deficiency presenting as non-immune hydrops fetalis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A suggested nomenclature for designating mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gaucher disease mutations in non-Jewish patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Kufs disease: clinical features and forms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epilepsies in twins: genetics of the major epilepsy syndromes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A potassium channel mutation in neonatal human epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lack of association between an interleukin 1 beta (IL-1beta) gene variation and refractory temporal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progress in mapping human epilepsy genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and molecular characteristics of Japanese Gaucher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regional and developmental expression of Epm2a gene and its evolutionary conservation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gaucher disease: gene frequencies and genotype/phenotype correlations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Electroretinogram and visual evoked response in a form of `neuronal lipidosis' with diagnostic EEG features
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Northern Epilepsy Syndrome: Clinical Course and the Effect of Medication on Seizures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Observations on forty twin index cases with chronic epilepsy and their co-twins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lack of Association Between Juvenile Myoclonic Epilepsy and HLA-DR13
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Benign familial neonatal convulsions linked to genetic markers on chromosome 20.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression monitoring by hybridization to high-density oligonucleotide arrays
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and organization of the human metaxin gene (MTX) and pseudogene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Role of ER export signals in controlling surface potassium channel numbers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of new and common mutations in the EPM2A gene in Lafora disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immunological discrimination of intralysosomal, cytosolic, and two membrane sialidases present in rat tissues.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Impaired M-current and neuronal excitability
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of a gene for partial epilepsy to chromosome 10q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurophysiological identification of a late infantile form of 'neuronal lipidosis'.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chorea-acanthocytosis: genetic linkage to chromosome 9q21
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Replication Analysis of a Putative Susceptibility Locus (EGI) for Idiopathic Generalized Epilepsy on Chromosome 8q24
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuronal ceroid-lipofuscinoses in childhood
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lysosomal and plasma membrane ganglioside GM3 sialidases of cultured human fibroblasts. Differentiation by detergents and inhibitors.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic factors in epileptic seizures: evidence from a large twin population
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Similarities of EEG and seizures in del(1q) and benign rolandic epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two genetically different MU-NANA neuraminidases in human leucocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Radicals r'aging
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene encoding human protective protein (PPGB) is on chromosome 20
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of genes predisposing to idiopathic generalized epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dysfunction of M-channel enhances propagation of neuronal excitability in rat hippocampus monitored by multielectrode dish and microdialysis systems.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-0102%2802%2900065-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0168-0102(02)00065-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
PubMed publication ID
12204289
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12204289
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12204289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 November 2019
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit