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Article

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

Epilepsia - 1 Oct 2011

Liang Jao-Shwann, Shimojima Keiko, Takayama Rumiko, Natsume Jun, Shichiji Minobu, Hirasawa Kyoko, Imai Kaoru, Okanishi Tohru, Mizuno Seiji, Okumura Akihisa, Sugawara Midori, Ito Tomoshiro, Ikeda Hiroko, Takahashi Yukitoshi, Oguni Hirokazu, Imai Katsumi, Osawa Makiko, Yamamoto Toshiyuki

Abstract excerpt

PURPOSE: Genetic mutations of the cyclin-dependent kinase-like 5 gene (CDKL5) have been reported in patients with epileptic encephalopathy, which is characterized by intractable seizures and severe-to-profound developmental delay. We investigated the clinical relevance of CDKL5 alterations in both genders. METHODS: A total of 125 patients with epileptic encephalopathy were examined for genomic copy number...

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Identifiers

PMID: 21770923
DOI: 10.1111/j.1528-1167.2011.03174.x

Genes

CDKL5
MECP2

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