Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q35198044)
Watch
English
The genetics of human epilepsy
scientific article
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
The genetics of human epilepsy
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
author
Samuel Berkovic
object named as
Samuel F Berkovic
series ordinal
2
0 references
Ingrid Scheffer
series ordinal
1
object named as
Ingrid E Scheffer
0 references
publication date
1 August 2003
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
published in
Trends in Pharmacological Sciences
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
volume
24
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
issue
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
page(s)
428-433
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
cites work
The role of sodium channels in cell adhesion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of an inherited epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe infantile epilepsies: molecular genetics challenge clinical classification.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sodium-channel defects in benign familial neonatal-infantile seizures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pathophysiology of ion channel mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuronal KCNQ potassium channels: physiology and role in disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
M-channels: neurological diseases, neuromodulation, and drug development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Age-dependent modulation of hippocampal excitability by KCNQ-channels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of epilepsy genes in human and mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
How mutations in the nAChRs can cause ADNFLE epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant partial epilepsy with auditory features: defining the phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
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%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A common protein interaction domain links two recently identified epilepsy genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel gene causing a mendelian audiogenic mouse epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genome search for susceptibility loci of common idiopathic generalised epilepsies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unraveling monogenic channelopathies and their implications for complex polygenic disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter GeneABCB1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proposal for Classification of Epilepsies and Epileptic Syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900194-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0165-6147(03)00194-9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
PubMed publication ID
12915053
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12915053
retrieved
7 August 2017
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