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

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

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

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

A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy

(2011) Eun Hye Lee et al.   BRAIN & DEVELOPMENT

Epilepsy genetics—past, present, and future

(2011) Annapurna Poduri et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Intellectual disability without epilepsy associated with STXBP1 disruption

(2011) Fadi F Hamdan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack

(2010) Maile R Brown et al.   NATURE NEUROSCIENCE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Epileptic syndromes in infancy and childhood

(2009) Rima Nabbout et al.   CURRENT OPINION IN NEUROLOGY

The N-Terminal Domain of Slack Determines the Formation and Trafficking of Slick/Slack Heteromeric Sodium-Activated Potassium Channels

(2009) H. Chen et al.   JOURNAL OF NEUROSCIENCE

Use of optical biosensors to detect modulation of Slack potassium channels by G protein-coupled receptors

(2009) Matthew R. Fleming et al.   JOURNAL OF RECEPTORS AND SIGNAL TRANSDUCTION

Migrating Focal Seizures in Infancy: Analysis of the Electroclinical Patterns in 17 Patients

(2008) Roberto Horacio Caraballo et al.   JOURNAL OF CHILD NEUROLOGY

Amino-termini isoforms of the Slack K+channel, regulated by alternative promoters, differentially modulate rhythmic firing and adaptation

(2008) Maile R. Brown et al.   JOURNAL OF PHYSIOLOGY-LONDON

Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children

(2008) Nelia Zamponi et al.   NEUROSURGICAL REVIEW

The sodium-activated potassium channel Slack is modulated by hypercapnia and acidosis

(2007) V.A. Ruffin et al.   NEUROSCIENCE