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23
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Familial partial epilepsy
- ... DEPDC5 gene mutations go on to develop FFEVF. Familial partial epilepsy with variable foci FFEVF Partial epilepsy with variable foci Genetic Testing Registry: Epilepsy, familial focal, with variable foci 1 Genetic Testing Registry: ...
- ... Li BM, Liao WP. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. Genes Brain Behav. 2012 ...
- ... Pedley TA, Hauser WA, Ottman R. Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to ...
- ... from a parent and does not run in families. This condition is caused by a new mutation that occurs ... migrating partial epilepsy of infancy Migrating partial epilepsy of infancy Migrating ...
- ... with no history of the disorder in their family. Acquired aphasia with epilepsy DEE/EE-SWAS Developmental and/or epileptic encephalopathy ...
- ... 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 ...
- ... on PubMed Oppenheimer S, Dignan P, Soukup S. Partial trisomy 20p: familial occurrence. Am J Med Genet. 2000 Dec 11; ...
- ... 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 ...