(Q37523411)

20 August 2017

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title

Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain (English)

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20 August 2017

Danielle M Andrade

1

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20 August 2017

publication date

18 June 2009

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20 August 2017

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20 August 2017

volume

126

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20 August 2017

issue

1

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20 August 2017

page(s)

173-193

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https://scigraph.springernature.com/pub.10.1007/s00439-009-0702-1

20 August 2017

exact match

0 references

cites work

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

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A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

21 January 2018

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

21 January 2018

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Interaction between LIS1 and doublecortin, two lissencephaly gene products

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Differential expression of glutamate and GABA-A receptor subunit mRNA in cortical dysplasia

21 January 2018

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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

The molecular machinery of synaptic vesicle exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Schizencephaly: correlations of clinical and radiologic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Periventricular heterotopia associated with chromosome 5p anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Cortical dysplasia: an immunocytochemical study of three patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Autosomal dominant partial epilepsy with auditory features: defining the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Periventricular nodular heterotopia and Williams syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0702-1

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

21 January 2018

1 reference

12 December 2020

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

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12 December 2020

Reelin binds alpha3beta1 integrin and inhibits neuronal migration.

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12 December 2020

Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study

1 reference

12 December 2020

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

1 reference

12 December 2020

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

1 reference

12 December 2020

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

1 reference

12 December 2020

The spectrum of SCN1A-related infantile epileptic encephalopathies

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12 December 2020

Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation

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12 December 2020

mTOR cascade activation distinguishes tubers from focal cortical dysplasia

1 reference

12 December 2020

Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q

1 reference

12 December 2020

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1

1 reference

12 December 2020

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

12 December 2020

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

1 reference

12 December 2020

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

1 reference

12 December 2020

Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR

1 reference

12 December 2020

Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.

1 reference

12 December 2020

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

1 reference

12 December 2020

A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy

1 reference

12 December 2020

X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus

1 reference

12 December 2020

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22

1 reference

12 December 2020

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

12 December 2020

Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation.

1 reference

12 December 2020

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

1 reference

12 December 2020

SRPX2 mutations in disorders of language cortex and cognition

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12 December 2020

Cortical and thalamic axon pathfinding defects in Tbr1, Gbx2, and Pax6 mutant mice: evidence that cortical and thalamic axons interact and guide each other

1 reference

12 December 2020

Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).

1 reference

12 December 2020

APOE epsilon4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy

1 reference

12 December 2020

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

1 reference

12 December 2020

A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.

1 reference

12 December 2020

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

1 reference

12 December 2020

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

1 reference

12 December 2020

Linkage and association analysis of CACNG3 in childhood absence epilepsy

1 reference

12 December 2020

Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.

1 reference

12 December 2020

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

1 reference

12 December 2020

Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia

1 reference

12 December 2020

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

1 reference

12 December 2020

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

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12 December 2020

Regulation of area identity in the mammalian neocortex by Emx2 and Pax6.

1 reference

12 December 2020

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

1 reference

12 December 2020

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

1 reference

12 December 2020

A de novo LGI1 mutation in sporadic partial epilepsy with auditory features

1 reference

12 December 2020

Genetics of convulsive disorders. II. Genetic and electroencephalographic studies in centrencephalic epilepsy

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12 December 2020

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.

1 reference

12 December 2020

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

1 reference

12 December 2020

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

1 reference

12 December 2020

Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

1 reference

12 December 2020

Association Analysis of a Polymorphism of Interleukin 1β (IL‐1β) Gene with Temporal Lobe Epilepsy in a Chinese Population

1 reference

12 December 2020

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy

1 reference

12 December 2020

Nicotinic receptors in circuit excitability and epilepsy

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12 December 2020

Evaluation of CACNA1H in European patients with childhood absence epilepsy

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12 December 2020

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

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12 December 2020

Lack of association between an interleukin 1 beta (IL-1beta) gene variation and refractory temporal lobe epilepsy

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12 December 2020

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

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12 December 2020

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

1 reference

12 December 2020

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

1 reference

12 December 2020

1 reference

12 December 2020

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

1 reference

12 December 2020

MICRO syndrome: an entity distinct from COFS syndrome.

1 reference

12 December 2020

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

1 reference

12 December 2020

Periventricular and subcortical nodular heterotopia. A study of 33 patients.

1 reference

12 December 2020

Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene

1 reference

12 December 2020

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

1 reference

12 December 2020

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

1 reference

12 December 2020

Interleukin-1beta gene polymorphism and susceptibility to temporal lobe epilepsy with hippocampal sclerosis.

1 reference

12 December 2020

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

1 reference

12 December 2020

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

1 reference

12 December 2020

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

1 reference

12 December 2020

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

1 reference

12 December 2020

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years

1 reference

12 December 2020

SCN1A mutations and epilepsy

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12 December 2020

Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration

1 reference

12 December 2020

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

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12 December 2020

Seizure characteristics in chromosome 20 benign familial neonatal convulsions

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12 December 2020

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

1 reference

12 December 2020

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

1 reference

12 December 2020

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

1 reference

12 December 2020

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

1 reference

12 December 2020

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

1 reference

12 December 2020

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

1 reference

12 December 2020

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

1 reference

12 December 2020

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

1 reference

12 December 2020

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

1 reference

12 December 2020

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.

1 reference

12 December 2020

Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder

1 reference

12 December 2020

Interictal regional polyspikes in noninvasive EEG suggest cortical dysplasia as etiology of focal epilepsies.

1 reference

12 December 2020

Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras

1 reference

12 December 2020

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

1 reference

12 December 2020

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

1 reference

12 December 2020

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

1 reference

12 December 2020

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

1 reference

12 December 2020

KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy

1 reference

12 December 2020

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

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12 December 2020

G protein-coupled receptor-dependent development of human frontal cortex

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12 December 2020

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

1 reference

12 December 2020

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects

1 reference

12 December 2020

LIS1: from cortical malformation to essential protein of cellular dynamics

1 reference

12 December 2020

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

1 reference

12 December 2020

Emx2 patterns the neocortex by regulating FGF positional signaling

1 reference

12 December 2020

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes

1 reference

12 December 2020

Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28.

1 reference

12 December 2020

Emx1, emx2 and pax6 in specification, regionalization and arealization of the cerebral cortex

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12 December 2020

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion

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12 December 2020

MRI of a family with focal abnormalities of gyration.

1 reference

12 December 2020

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

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12 December 2020

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X

1 reference

12 December 2020

Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases.

1 reference

12 December 2020

Localization of a gene for partial epilepsy to chromosome 10q

1 reference

12 December 2020

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

1 reference

12 December 2020

Genetic and neuroradiological heterogeneity of double cortex syndrome.

1 reference

12 December 2020

Endostatin: an endogenous inhibitor of angiogenesis and tumor growth

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12 December 2020

Insulin signaling pathways in cortical dysplasia and TSC-tubers: tissue microarray analysis.

1 reference

12 December 2020

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

1 reference

12 December 2020

No major role for theEMX2gene in schizencephaly

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

12 December 2020

Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

1 reference

12 December 2020

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

1 reference

12 December 2020

Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy.

1 reference

12 December 2020

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

1 reference

12 December 2020

CNS malformations in Knobloch syndrome with splice mutation inCOL18A1 gene

1 reference

12 December 2020

Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type.

1 reference

12 December 2020

Inhibitory circuits in human dysplastic tissue

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12 December 2020

Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes.

1 reference

12 December 2020

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

1 reference

12 December 2020

Glioneuronal malformative lesions and dysembryoplastic neuroepithelial tumors in patients with chronic pharmacoresistant epilepsies.

1 reference

12 December 2020

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

1 reference

12 December 2020

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

1 reference

12 December 2020

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

1 reference

12 December 2020

Corticotropin releasing factor decreases postburst hyperpolarizations and excites hippocampal neurons.

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12 December 2020

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

1 reference

12 December 2020

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults.

1 reference

12 December 2020

Five ADNFLE Mutations Reduce the Ca2+ Dependence of the Mammalian α4β2 Acetylcholine Response

1 reference

12 December 2020

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

1 reference

12 December 2020

Association between genetic variation of CACNA1H and childhood absence epilepsy

1 reference

12 December 2020

A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy

1 reference

12 December 2020

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

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12 December 2020

The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1

1 reference

12 December 2020

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

1 reference

12 December 2020

Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.

1 reference

12 December 2020

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

1 reference

12 December 2020

Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons

1 reference

12 December 2020

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

1 reference

12 December 2020

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults

1 reference

12 December 2020

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

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12 December 2020

ACTH does not control neonatal seizures induced by administration of exogenous corticotropin-releasing hormone

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12 December 2020

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

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12 December 2020

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

12 December 2020

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

12 December 2020

Increased LIS1 expression affects human and mouse brain development

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12 December 2020

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

1 reference

12 December 2020

Expression and cell distribution of group I and group II metabotropic glutamate receptor subtypes in taylor-type focal cortical dysplasia

1 reference

12 December 2020

Molecular basis of an inherited epilepsy

1 reference

12 December 2020

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females

1 reference

12 December 2020

Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome.

1 reference

12 December 2020

Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?

1 reference

12 December 2020

Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?

1 reference

12 December 2020

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

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12 December 2020

The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface

1 reference

12 December 2020

Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome.

1 reference

12 December 2020

Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q.

1 reference

12 December 2020

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

1 reference

12 December 2020

A potassium channel mutation in neonatal human epilepsy

1 reference

12 December 2020

Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

1 reference

12 December 2020

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

1 reference

12 December 2020

Neuronal migration disorders, genetics, and epileptogenesis

1 reference

12 December 2020

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

1 reference

12 December 2020

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

1 reference

12 December 2020

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation

1 reference

12 December 2020

Syndromes of bilateral symmetrical polymicrogyria

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12 December 2020

1 reference

12 December 2020

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

12 December 2020

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

1 reference

12 December 2020

Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families

1 reference

12 December 2020

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

1 reference

12 December 2020

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

1 reference

12 December 2020

Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

1 reference

12 December 2020

Transcription factors in glutamatergic neurogenesis: conserved programs in neocortex, cerebellum, and adult hippocampus

1 reference

12 December 2020

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Comprehensive EMX2 genotyping of a large schizencephaly case series.

1 reference

12 December 2020

Mutations in EFHC1 cause juvenile myoclonic epilepsy

1 reference

12 December 2020

GPR56 regulates pial basement membrane integrity and cortical lamination

1 reference

12 December 2020

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

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12 December 2020

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

1 reference

12 December 2020

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

1 reference

12 December 2020

10.1007/S00439-009-0702-1

Identifiers

DOI

1 reference

20 August 2017

1 reference