Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

(2012) Hirotomo Saitsu et al.   ANNALS OF NEUROLOGY

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

(2012) Hirotomo Saitsu et al.   EPILEPSIA

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures

(2011) Snezana Maljevic et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

What causes epileptic encephalopathy in infancy?: The answer may lie in our genes

(2010) K. D. Holland et al.   NEUROLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions

(2009) Linda Volkers et al.   NEUROSCIENCE LETTERS

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS