KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures

(2018) Priyanka Madaan et al.   BRAIN & DEVELOPMENT

Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature

(2018) Elie Abdelnour et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

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

(2018) Robertino Dilena et al.   Neurotherapeutics

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures

(2018) Mathieu Kuchenbuch et al.   EPILEPSIA

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries

(2017) Yuki Kawasaki et al.   JOURNAL OF PEDIATRICS

Quinidine-associated skin discoloration inKCNT1-associated pediatric epilepsy

(2017) Fiona M. Baumer et al.   NEUROLOGY

Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy

(2017) Amy McTague et al.   NEUROLOGY

Ineffective quinidine therapy in early onset epileptic encephalopathy withKCNT1mutation

(2016) Pin Fee Chong et al.   ANNALS OF NEUROLOGY

Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy

(2016) Tatsuo Mori et al.   BRAIN & DEVELOPMENT

Modeling the effect of sleep regulation on a neural mass model

(2016) Michael Schellenberger Costa et al.   JOURNAL OF COMPUTATIONAL NEUROSCIENCE

KCNT1mutations in seizure disorders: the phenotypic spectrum and functional effects

(2016) Chiao Xin Lim et al.   JOURNAL OF MEDICAL GENETICS

Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy

(2016) Francesca Rizzo et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Motor neuropathy contributes to crouching in patients with Dravet syndrome

(2016) Cyril Gitiaux et al.   NEUROLOGY

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

(2016) Carolien G.F. de Kovel et al.   Molecular Genetics & Genomic Medicine

Quinidine in the treatment of KCNT1-positive epilepsies

(2015) Mohamad A Mikati et al.   ANNALS OF NEUROLOGY

De novoKCNT1mutations in early-onset epileptic encephalopathy

(2015) Chihiro Ohba et al.   EPILEPSIA

Mutations inKCNT1cause a spectrum of focal epilepsies

(2015) Rikke S. Møller et al.   EPILEPSIA

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

(2015) Byung Chan Lim et al.   EPILEPSY RESEARCH

Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy

(2015) Olga Selioutski et al.   JOURNAL OF CLINICAL NEUROPHYSIOLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Targeted treatment of migrating partial seizures of infancy with quinidine

(2014) David Bearden et al.   ANNALS OF NEUROLOGY

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Emerging role of the KCNT1 Slack channel in intellectual disability

(2014) Grace E. Kim et al.   Frontiers in Cellular Neuroscience

Disease-Targeted Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome

(2014) Jyh-Ming Jimmy Juang et al.   Scientific Reports

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

(2013) Amy McTague et al.   BRAIN

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy

(2013) Atsushi Ishii et al.   GENE

Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

(2013) Mathieu Milh et al.   HUMAN MUTATION

Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam

(2012) Dana Merdariu et al.   BRAIN & DEVELOPMENT

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron et al.   NATURE GENETICS

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Migrating Focal Seizures During Infancy: A Case Report and Pathologic Study

(2012) Lorena Fasulo et al.   PEDIATRIC NEUROLOGY

Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancy

(2011) Emily R. Freilich et al.   ARCHIVES OF NEUROLOGY

A CDKL5 mutated child with precocious puberty

(2009) Veronica Saletti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Malignant migrating partial seizures in infancy: An epilepsy syndrome of unknown etiology

(2009) Giangennaro Coppola   EPILEPSIA

The three stages of epilepsy in patients withCDKL5mutations

(2008) Nadia Bahi-Buisson et al.   EPILEPSIA