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Article

Novel clinical manifestations in patients with KCNA2 mutations.

Seizure - 1 Oct 2017

Sachdev Monisha, Gaínza-Lein Marina, Tchapyjnikov Dmitry, Jiang Yong-Hui, Loddenkemper Tobias, Mikati Mohamad A

Abstract excerpt

PURPOSE: To report novel clinical manifestations of KCNA2 mutation related epileptic encephalopathy. METHODS: Blood samples were sent for whole exome and Sanger sequencing. Seizure types were characterized by clinical criteria and EEG recording. RESULTS: KCNA2 mutations have been reported in 10 cases who presented with focal, absence, generalized tonic-clonic or myoclonic astatic seizures. Here we describe 3...

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Child
Child, Preschool
Epilepsy
Mutation
Young Adult

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Identifiers

PMID: 28806589
DOI: 10.1016/j.seizure.2017.07.018

Genes

KCNA2

Variants

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