相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy
Amy McTague et al.
NEUROLOGY (2018)
A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures
Priyanka Madaan et al.
BRAIN & DEVELOPMENT (2018)
Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature
Elie Abdelnour et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2018)
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy
Robertino Dilena et al.
NEUROTHERAPEUTICS (2018)
Lack of response to quinidine in KCNT1-related neonatal epilepsy
Adam L. Numis et al.
EPILEPSIA (2018)
Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries
Yuki Kawasaki et al.
JOURNAL OF PEDIATRICS (2017)
Quinidine therapy for West syndrome with KCNTI mutation: A case report
Masataka Fukuoka et al.
BRAIN & DEVELOPMENT (2017)
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy
Natsuko Arai-Ichinoi et al.
HUMAN GENETICS (2016)
Ineffective Quinidine Therapy in Early Onset Epileptic Encephalopathy With KCNT1 Mutation
Pin Fee Chong et al.
ANNALS OF NEUROLOGY (2016)
Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy
Tatsuo Mori et al.
BRAIN & DEVELOPMENT (2016)
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects
Chiao Xin Lim et al.
JOURNAL OF MEDICAL GENETICS (2016)
Quinidine in the Treatment of KCNT1-Positive Epilepsies
Mohamad A. Mikati et al.
ANNALS OF NEUROLOGY (2015)
De novo KCNT1 mutations in early-onset epileptic encephalopathy
Chihiro Ohba et al.
EPILEPSIA (2015)
Mutations in KCNT1 cause a spectrum of focal epilepsies
Rikke S. Moller et al.
EPILEPSIA (2015)
Targeted Treatment of Migrating Partial Seizures of Infancy with Quinidine
David Bearden et al.
ANNALS OF NEUROLOGY (2014)
KCNT1 Gain of Function in 2 Epilepsy Phenotypes is Reversed by Quinidine
Carol J. Milligan et al.
ANNALS OF NEUROLOGY (2014)
Lack of pathogenic mutations in six patients with MMPSI
Maria Rosaria De Filippo et al.
EPILEPSY RESEARCH (2014)
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
Hilary C. Martin et al.
HUMAN MOLECULAR GENETICS (2014)
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
KCNQ2 ENCEPHALOPATHY: DELINEATION OF THE ELECTROCLINICAL PHENOTYPE AND TREATMENT RESPONSE
Adam L. Numis et al.
NEUROLOGY (2014)
Identification of a Novel de Novo p.Phe932lle KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy
Adeline Vanderver et al.
PEDIATRIC NEUROLOGY (2014)
Disease-Targeted Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome
Jyh-Ming Jimmy Juang et al.
SCIENTIFIC REPORTS (2014)
Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels
Grace E. Kim et al.
CELL REPORTS (2014)
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy
Atsushi Ishii et al.
GENE (2013)
Potassium Bromide for Treatment of Malignant Migrating Partial Seizures in Infancy
Olcay Unver et al.
PEDIATRIC NEUROLOGY (2013)
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
Sarah E. Heron et al.
NATURE GENETICS (2012)
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
Giulia Barcia et al.
NATURE GENETICS (2012)
Migrating Focal Seizures During Infancy: A Case Report and Pathologic Study
Lorena Fasulo et al.
PEDIATRIC NEUROLOGY (2012)
Bromoderma in a patient with migrating partial seizures in infancy
Shin Nabatame et al.
EPILEPSY RESEARCH (2010)
New SCN5A mutation in a SUDEP victim with idiopathic epilepsy
Dag Aurlien et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2009)
Two cases of sudden unexpected death in epilepsy in a GEFS plus family with an SCN1A mutation
Neeti Hindocha et al.
EPILEPSIA (2008)
Migrating focal seizures in infancy: Analysis of the electroclinical patterns in 17 patients
Roberto Horacio Caraballo et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Pharmacology, efficacy, and tolerability of potassium bromide in childhood epilepsy
Rudolf Korinthenberg et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Pharmacological activation and inhibition of Slack (Slo2.2) channels
Bo Yang et al.
NEUROPHARMACOLOGY (2006)
Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy
G Coppola et al.
BRAIN & DEVELOPMENT (2006)
For K+ channels, Na+ is the new Ca2+
A Bhattacharjee et al.
TRENDS IN NEUROSCIENCES (2005)
The sodium-activated potassium channel is encoded by a member of the Slo gene family
A Yuan et al.
NEURON (2003)
Sodium bromide: effects on different patterns of epileptiform activity, extracellular pH changes and GABAergic inhibition
H Meierkord et al.
NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY (2000)
Successful control with bromide of two patients with malignant migrating partial seizures in infancy
K Okuda et al.
BRAIN & DEVELOPMENT (2000)
分享论文
