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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.
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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DbLabel: Psychology and Behavioral Sciences Collection
An: 12264158
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit.
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  Data: <searchLink fieldCode="AR" term="%22Annesi%2C+Grazia%22">Annesi, Grazia</searchLink><br /><searchLink fieldCode="AR" term="%22Sofia%2C+Vito%22">Sofia, Vito</searchLink><br /><searchLink fieldCode="AR" term="%22Gambardella%2C+Antonio%22">Gambardella, Antonio</searchLink><br /><searchLink fieldCode="AR" term="%22Candanio%2C+Innocenza+C%2E+Ciro%22">Candanio, Innocenza C. Ciro</searchLink><br /><searchLink fieldCode="AR" term="%22Spadafora%2C+Patrizia%22">Spadafora, Patrizia</searchLink><br /><searchLink fieldCode="AR" term="%22Annesi%2C+Ferdinanda%22">Annesi, Ferdinanda</searchLink><br /><searchLink fieldCode="AR" term="%22Cutuli%2C+Nunzio%22">Cutuli, Nunzio</searchLink><br /><searchLink fieldCode="AR" term="%22De+Marco%2C+Elvira+V%2E%22">De Marco, Elvira V.</searchLink><br /><searchLink fieldCode="AR" term="%22Civitelli%2C+Donatella%22">Civitelli, Donatella</searchLink><br /><searchLink fieldCode="AR" term="%22Carrideo%2C+Sara%22">Carrideo, Sara</searchLink><br /><searchLink fieldCode="AR" term="%22Tarantino%2C+Patrizia%22">Tarantino, Patrizia</searchLink><br /><searchLink fieldCode="AR" term="%22Barone%2C+Rita%22">Barone, Rita</searchLink><br /><searchLink fieldCode="AR" term="%22Zappia%2C+Mario%22">Zappia, Mario</searchLink><br /><searchLink fieldCode="AR" term="%22Quattrone%2C+Aldo%22">Quattrone, Aldo</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Epilepsia+%28Series+4%29%22">Epilepsia (Series 4)</searchLink>. Mar2004, Vol. 45 Issue 3, p294-295. 2p.
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  Data: <searchLink fieldCode="DE" term="%22Myoclonus%22">Myoclonus</searchLink><br /><searchLink fieldCode="DE" term="%22Exons+%28Genetics%29%22">Exons (Genetics)</searchLink><br /><searchLink fieldCode="DE" term="%22Cognition+disorders%22">Cognition disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Learning+disabilities%22">Learning disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Neurology%22">Neurology</searchLink><br /><searchLink fieldCode="DE" term="%22Ubiquitin%22">Ubiquitin</searchLink>
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  Label: Abstract
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  Data: 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.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=12264158
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        Value: 10.1111/j.0013-9580.2004.33203.x
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        Text: English
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              Text: Mar2004
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