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Results 1 - 10 of 25 for Infantile epilepsy syndrome
  1. GM3 synthase deficiency 
    ... show signs and symptoms of the condition. Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic Ganglioside GM3 synthase deficiency Infantile-onset ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
  2. ST3GAL5 gene 
    ... Dwek RA, Butters TD, Platt FM, Crosby AH. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation ...
    https://medlineplus.gov/genetics/gene/st3gal5 - Genetics
  3. Lennox-Gastaut syndrome 
    ... brain (cerebral cortex). Many people with Lennox-Gastaut syndrome have a history of epilepsy beginning in infancy (infantile spasms) or a related condition called West syndrome ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  4. ARX gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  5. Aicardi syndrome 
    ... corpus callosum). They have seizures beginning in infancy (infantile spasms), ... often have additional brain abnormalities, including asymmetry between ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  6. Developmental and epileptic encephalopathy 1 
    ... Frost JD Jr. Infantile epileptic encephalopathy with hypsarrhythmia (infantile ... based on molecular and cell biology. Epilepsy Res. 2006 Aug;70 Suppl 1:S87-95. ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  7. Partington syndrome 
    ... implicated in familial cases of mental retardation with infantile epilepsy ... neurological features of Partington syndrome. Am J Med Genet. 2002 Nov 1;112( ...
    https://medlineplus.gov/genetics/condition/partington-syndrome - Genetics
  8. CDKL5 deficiency disorder 
    ... CDKL5 deficiency CDKL5 disorder CDKL5 encephalopathy CDKL5-related epilepsy CDKL5-related epileptic encephalopathy Cyclin-dependent ... disorder National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  9. 19p13.13 deletion syndrome 
    ... 13 including CACNA1A associated with mental retardation and epilepsy with ... microdeletion/microduplication syndrome of 19p13.13. Genet Med. 2010 Aug;12( ...
    https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome - Genetics
  10. 15q11-q13 duplication syndrome 
    ... of people with dup15q syndrome have recurrent seizures (epilepsy). The ... type called infantile spasms (seizures that usually appear before the age ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
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