A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit.
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| Title: | A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit. |
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| Authors: | Annesi, Grazia, Sofia, Vito, Gambardella, Antonio, Candanio, Innocenza C. Ciro, Spadafora, Patrizia, Annesi, Ferdinanda, Cutuli, Nunzio, De Marco, Elvira V., Civitelli, Donatella, Carrideo, Sara, Tarantino, Patrizia, Barone, Rita, Zappia, Mario, Quattrone, Aldo |
| Source: | Epilepsia (Series 4). Mar2004, Vol. 45 Issue 3, p294-295. 2p. |
| Subjects: | Myoclonus, Exons (Genetics), Cognition disorders, Learning disabilities, Neurology, Ubiquitin |
| Abstract: | Describes a novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as a childhood-onset cognitive deficit. Dual-specificity phosphatase; Ubiquitin ligase encoding malin; Neurologic deterioration; Learning problems and educational difficulties. |
| Database: | Psychology and Behavioral Sciences Collection |
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