Whole exome sequencing identifies KCNQ2 mutations... [Ann Neurol. 2012] - PubMed

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Expect the unexpected in epilepsy genetics: mutations in an epilepsy gene considered to be benign result in a severe phenotype. [Ann Neurol. 2012]
Expect the unexpected in epilepsy genetics: mutations in an epilepsy gene considered to be benign result in a severe phenotype.
Poduri A. Ann Neurol. 2012 Jan; 71(1):1-2.
Epilepsy. Genetics of early-onset epilepsy with encephalopathy. [Nat Rev Neurol. 2012]
Epilepsy. Genetics of early-onset epilepsy with encephalopathy.
Nabbout R, Dulac O. Nat Rev Neurol. 2012 Jan 31; 8(3):129-30. Epub 2012 Jan 31.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. [Ann Neurol. 2012]
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, et al. Ann Neurol. 2012 Jan; 71(1):15-25.
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Review Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).
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Review Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.
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Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
Ann Neurol. 2012 Aug ;72(2):298-300. doi: 10.1002/ana.23620.

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