Homozygous variants in SPAST cause severe epileptic encephalopathy

被引：0
|
作者：
Degoutin, Manon [1 ]
Bataille, Marine Guillaud [2 ]
Lacombe, Didier [1 ,3 ]
Angelini, Chloe [1 ,4 ,5 ]
Goizet, Cyril [1 ,4 ,5 ]
机构：
[1] CHU Bordeaux, Serv Genet Med, Hop Pellegrin, Bordeaux, France
[2] Sorbonne Univ, Hop Pitie Salpetriere, AP HP, UF Neurogenet Mol & Cellulaire,Ctr Genet Mole & C, Paris, France
[3] Univ Bordeaux, MRGM, INSERM, U1211, F-33000 Bordeaux, France
[4] CHU Bordeaux, Ctr Reference Malad Rares Neurogenet, Serv Genet Med, Bordeaux, France
[5] Univ Bordeaux, CNRS, INCIA, UMR 5287,NRGen Team, F-33000 Bordeaux, France
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P10.052.D
引用
收藏
页码：498 / 498
页数：1
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