Article
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4.
Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2015
Okumura Akihisa, Atsushi Ishii, Shimojima Keiko, Kurahashi Hirokazu, Yoshitomi Shinsaku, lmai Katsumi, Imamura Mari, Seki Yuko, Toshiaki Shimizu Toshiaki, Hirose Shinichi, Yamamoto Toshiyuki
Abstract excerpt
In order to clarify the phenotypes of 20q13.33 microdeletion, clinical manifestations and genetic findings from four patients are discussed in relation to chromosomal microdeletions at 20q13.33. All patients had epileptic seizures mostly beginning within the neonatal period and disappearing by 4 months of age, similar to epilepsy phenotypes of benign familial neonatal seizures. We performed array comparative,...
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