PCDH19 -related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy

Highlights • Early clinical features of PCDH19 -related epilepsy were explored. • Unique patterns of initial seizure clusters were identified. • Treatment efficacy in our patients was summarized. • The significance of PCDH19 deletion in this epilepsy was confirmed.

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Veröffentlicht in:	Epilepsy research 2013-09, Vol.106 (1), p.191-199
Hauptverfasser:	Higurashi, Norimichi, Nakamura, Mai, Sugai, Misaki, Ohfu, Masaharu, Sakauchi, Masako, Sugawara, Yuji, Nakamura, Kazuyuki, Kato, Mitsuhiro, Usui, Daisuke, Mogami, Yukiko, Fujiwara, Yumi, Ito, Tomoshiro, Ikeda, Hiroko, Imai, Katsumi, Takahashi, Yukitoshi, Nukui, Megumi, Inoue, Takeshi, Okazaki, Shin, Kirino, Tomoko, Tomonoh, Yuko, Inoue, Takahito, Takano, Kyoko, Shimakawa, Shuichi, Hirose, Shinichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age of Onset Anticonvulsants - therapeutic use Antiepileptic drugs Biological and medical sciences Cadherins - genetics Child Child, Preschool Cluster Analysis DNA - genetics Early diagnosis Epilepsy - classification Epilepsy - drug therapy Epilepsy - genetics Female Flow Cytometry Genetic analysis Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Magnetic Resonance Imaging Medical sciences Multiplex ligation-dependent probe amplification Multiplex Polymerase Chain Reaction Mutation - genetics NAV1.1 Voltage-Gated Sodium Channel - genetics Nervous system (semeiology, syndromes) Neurology Seizure clusters Seizures - classification Seizures - genetics Seizures - physiopathology Treatment Young Adult
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Beschreibung
Zusammenfassung:	Highlights • Early clinical features of PCDH19 -related epilepsy were explored. • Unique patterns of initial seizure clusters were identified. • Treatment efficacy in our patients was summarized. • The significance of PCDH19 deletion in this epilepsy was confirmed.
ISSN:	0920-1211 1872-6844
DOI:	10.1016/j.eplepsyres.2013.04.005