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A N ovel H omozygous TBC 1 D 24 M utation C ausing M ultifocal M yoclonus W ith C erebellar I nvolvement
Author(s) -
Doummar Diane,
Mignot Cyril,
Apartis Emmanuelle,
Villard Laurent,
Rodriguez Diana,
ChantotBastauraud Sandra,
Burglen Lydie
Publication year - 2015
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.26303
Subject(s) - computer science , computer network
International audienceThe 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 epilepsywith 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