Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
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A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizuresIdentification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunctionGamma oscillation underlies hyperthermia-induced epileptiform-like spikes in immature rat hippocampal slicesA locus for febrile seizures (FEB3) maps to chromosome 2q23-24New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndromeEpilepsy genetics--past, present, and futureGenetics of childhood epilepsyEvaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlasesEpilepsy genes: the link between molecular dysfunction and pathophysiology.Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy.Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizuresEFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneityLocalization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.Simple febrile convulsions: evidence for best practice.The pathogenesis of febrile seizures: is there a role for specific infections?Genetic identifiers of epilepsy.A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous familyThe Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.Genetics of inherited human epilepsiesFebrile seizures: an updateLack of association between TNF-α gene polymorphisms at position -308 A, -850T and risk of simple febrile convulsion in pediatric patients.Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.Molecular genetics of human familial epilepsy syndromes.Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures.Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus.Hyperthermic spreading depressions in the immature rat hippocampal slice.Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsyChildhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutationFebrile Seizures
P2860
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P2860
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
@ast
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
@en
type
label
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
@ast
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
@en
prefLabel
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
@ast
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
@en
P2093
P2860
P356
P1476
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
@en
P2093
Berkovic SF
Sutherland GR
Wallace RH
P2860
P304
P356
10.1136/JMG.33.4.308
P407
P577
1996-04-01T00:00:00Z