about
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyAbsence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndromeSodium-channel defects in benign familial neonatal-infantile seizuresBenign familial neonatal-infantile seizures: characterization of a new sodium channelopathyGenetic variation of CACNA1H in idiopathic generalized epilepsyAutosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.Genetics of epilepsy: The testimony of twins in the molecular eraA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.Channelopathies in idiopathic epilepsy.A polygenic heterogeneity model for common epilepsies with complex genetics.Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor alpha 4 subunit.Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3.Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsyMutations inPRRT2are not a common cause of infantile epileptic encephalopathiesDe novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal originFamilial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3Association studies and functional validation or functional validation alone?SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic SpectrumBRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings
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P50
description
hulumtuese
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onderzoeker
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հետազոտող
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name
Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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type
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Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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Sarah Heron
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Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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Sarah E Heron
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P108
P1053
F-4222-2013
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P21
P31
P3829
P3835
sarah-heron
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0000-0001-8759-6748