Journal articles
A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
Abstract : The phenotypic spectrum associated with recessive TBC1D24 mutations comprises focal epilepsy with cognitive impairment, familial infantile myoclonic epilepsy without intellectual impairment, progressive encephalopathy with myoclonus and dystonia, progressive myoclonus epilepsy
with ataxia, malignant migrating partial seizures of infancy, and DOORS syndrome.7 Here, we report on the case of a child with cortical myoclonus, cerebellar ataxia, and a novel TBC1D24 mutation.
Cited literature [7 references]
https://hal-amu.archives-ouvertes.fr/hal-01664305
Contributor : Laurent Villard Connect in order to contact the contributor
Submitted on : Tuesday, December 19, 2017 - 4:53:42 PM
Last modification on : Thursday, January 27, 2022 - 3:26:05 AM
Contributor : Laurent Villard Connect in order to contact the contributor
Submitted on : Tuesday, December 19, 2017 - 4:53:42 PM
Last modification on : Thursday, January 27, 2022 - 3:26:05 AM
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