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The role of SLC2A1 in early onset and childhood absence epilepsies.

Abstract：

:Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE.

journal_name

Epilepsy Res

journal_title

Epilepsy research

authors

Muhle H,Helbig I,Frøslev TG,Suls A,von Spiczak S,Klitten LL,Dahl HA,Brusgaard K,Neubauer B,De Jonghe P,Tommerup N,Stephani U,Hjalgrim H,Møller RS

doi

10.1016/j.eplepsyres.2012.11.004

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

229-33

issue

1-2

eissn

0920-1211

issn

1872-6844

pii

S0920-1211(12)00361-0

journal_volume

105

pub_type

杂志文章

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