Literature DB >> 15048902

Genetic variation of CACNA1H in idiopathic generalized epilepsy.

Sarah E Heron, Hilary A Phillips, John C Mulley, Aziz Mazarib, Miriam Y Neufeld, Samuel F Berkovic, Ingrid E Scheffer.   

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Year:  2004        PMID: 15048902     DOI: 10.1002/ana.20028

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


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  34 in total

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2.  Familial clustering of seizure types within the idiopathic generalized epilepsies.

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3.  Genetic variants in absence epilepsy: a contextual consideration of calcium current kinetics.

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Review 5.  Molecular targets for antiepileptic drug development.

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6.  De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

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Review 7.  Dendritic ion channelopathy in acquired epilepsy.

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Review 8.  Role of voltage-gated calcium channels in epilepsy.

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Review 9.  Channelopathies in idiopathic epilepsy.

Authors:  Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; Leanne M Dibbens; John C Mulley
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

10.  Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

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Journal:  Eur J Hum Genet       Date:  2009-10-14       Impact factor: 4.246

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