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PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S. Higurashi N, et al. Among authors: ito t. Epilepsy Res. 2013 Sep;106(1-2):191-9. doi: 10.1016/j.eplepsyres.2013.04.005. Epub 2013 May 24. Epilepsy Res. 2013. PMID: 23712037
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T. Liang JS, et al. Among authors: ito t. Epilepsia. 2011 Oct;52(10):1835-42. doi: 10.1111/j.1528-1167.2011.03174.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770923 Free article.
The presence of short and sharp MEG spikes implies focal cortical dysplasia.
Ueda Y, Egawa K, Ito T, Takeuchi F, Nakajima M, Otsuka K, Asahina N, Takahashi K, Nakane S, Kohsaka S, Shiraishi H. Ueda Y, et al. Among authors: ito t. Epilepsy Res. 2015 Aug;114:141-6. doi: 10.1016/j.eplepsyres.2015.04.020. Epub 2015 May 12. Epilepsy Res. 2015. PMID: 26088897
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