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Familial partial epilepsy
- ... Gilliam TC. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet. 2002 Mar;30( ... TA, Hauser WA. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology. 2004 Apr 13;62( ...
- ... identified in people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations ...
- ... The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in ... channel gene mutations in epilepsy--the functional consequences. Epilepsy Res. 2006 Aug;70 Suppl ... Epub 2006 Jun 27. Citation on PubMed
- ... JL. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet ...
- ... KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. ... with malignant migrating partial seizures in infancy. Gene. 2013 Dec 1;531( ...