Genetic models of focal epilepsies
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- 作者：Morgane Boillota ; b ; c ; d ; Sté ; phanie Baulaca ; b ; c ; d ; stephanie.baulac@upmc.fr" class="auth_mail" title="E-mail the corresponding author
- 关键词：Genetic focal epilepsies ; Cellular and animal models ; CHRNA4 ; CHRNB2 ; KCNT1 ; LGI1 ; DEPDC5
- 刊名：Journal of Neuroscience Methods
- 出版年：2016
- 出版时间：15 February 2016
- 年：2016
- 卷：260
- 期：Complete
- 页码：132-143
- 全文大小：1049 K
文摘
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Several focal epilepsy syndromes are proven to be monogenic disorders.
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Mutations in CHRNA4, CHRNB2, CHRNA2 and KCNT1 cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
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Mutations in LGI1 cause autosomal dominant epilepsy with auditory features (ADEAF).
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This review provides an update of the mutational spectrum in these genes.
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We review cellular and genetic animal models generated for autosomal dominant focal epilepsies.