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A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood‐onset Cognitive Deficit
Author(s) -
Annesi Grazia,
Sofia Vito,
Gambardella Antonio,
Candiano Innocenza C. Cirò,
Spadafora Patrizia,
Annesi Ferdinanda,
Cutuli Nunzio,
De Marco Elvira V.,
Civitelli Donatella,
Carrideo Sara,
Tarantino Patrizia,
Barone Rita,
Zappia Mario,
Quattrone Aldo
Publication year - 2004
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.0013-9580.2004.33203.x
Subject(s) - lafora disease , progressive myoclonus epilepsy , myoclonus , epilepsy , exon , psychology , genetics , pediatrics , medicine , neuroscience , biology , gene , phosphorylation , phosphatase