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Infantile epilepsy syndrome
- ... Dwek RA, Butters TD, Platt FM, Crosby AH. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation ...
- ... including X-linked lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is X-linked myoclonic epilepsy with intellectual disability and spasticity, which causes intellectual ...
- ... in people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations ...
- ... De Vivo DC. Brain glucose supply and the syndrome of infantile neuroglycopenia. Arch Neurol. 2007 Apr;64(4):507- ...
- ... 13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia. 2009 Nov;50(11):2501-3. ...
- ... Condition MedlinePlus Genetics provides information about ... SCN8A-related epilepsy with encephalopathy (described above), the SCN8A gene mutations ...