A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures

スポンサーリンク

概要

論文の詳細を見る
2005-09-01

著者

関連論文

Dietary Soy Protein Isolate and Its Undigested High Molecular Fraction Upregulate Hepatic ATP-Binding Cassette Transporter G5 and ATP-Binding Cassette Transporter G8 mRNA and Increase Biliary Secretion of Cholesterol in Rats
Abnormalities of voluntary saccades in Gilles de la Tourette's syndrome : pathophysiological consideration
IV B13 Sodium channel genes in patients following febrile seizures plus
Genetics of epilepsy : current status and perspectives
Genetic abnormalities underlying familial epilepsy syndromes
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
Neurology of Tourette's syndrome (TS) TS as a developmental dopamine disorder : a hypothesis
Kawasaki disease presenting with macroscopic hematuria
Guidelines for reporting clinical features in cases with MECP2 mutations
Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation(HPD), strictly defined dopa-responsive dystonia
X-ray induced Sister Chromatid Exchange and Chromosomal Aberrations in the Lymphocytes from the Patients with Neurofibromatosis
Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia(DYT1) : pathophysiological consideration
Endocytosis in the Epithelial Cells of the Endolymphatic Sac
Stimulus-Induced Behavior in F1 Hybrids of Seizure-Sensitive and Seizure-Resistant Gerbils(Neurobiology)
Molecular basis of severe myoclonic epilepsy in infancy
Convulsion during cyclosporin A therapy for nephrotic syndrome
Emerging and entraining patterns of the sleep-wake rhythm in preterm and term infants
R133C and R168X mutations in Japanese Rett syndrome patients : a caution for misdiagnosis
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia
Neurophysiology of Tourette's syndrome : pathophysiological considerations
Video analysis of gross body movements during sleep
Preface
Hereditary progressive dystonia with marked diurnal fluctuation
Cases of dopa-responsive dystonia (Segawa disease) in Estonia
Guidelines for reporting clinical features in cases with MECP2 mutations, by Alison Kerr and an international group
Early behavior characteristics and sleep disturbance in Rett syndrome
Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems
Neurophysiology of Rett syndrome
Development of language in Rett syndrome
Bilateral basal ganglia infarction after mild head trauma
Early motor disturbances in Rett syndrome and its pathophysiological importance
Epilepsy in autism : A pathophysiological consideration
Pathophysiology of Rett syndrome from the stand point of clinical
Hereditary progressive dystonia with marked diurnal fluctuation
Frequencies of sister chromatid exchanges in cells from patients with neurofibromatosis induced by mitomycin-C.

もっと見る

スポンサーリンク