CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mil...
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
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Publisher
England: Nature Publishing Group
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Language
English
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England: Nature Publishing Group
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Contents
CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). A minority of patients carrying CACNA1A mutations develops epilepsy. Non-motor symptoms associated with these mutations are often overlooked. In this study, we report...
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Full title
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4613477
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4613477
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.21
