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Results 1 - 10 of 17 for Myoclonic epilepsy in infancy
Did you mean mayoclinic epilepsy in infancy?
  1. SCN1A gene 
    ... such as Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI), that cause more serious seizures that ... Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res. 2006 Aug;70 ...
    https://medlineplus.gov/genetics/gene/scn1a - Genetics
  2. Genetic epilepsy with febrile seizures plus 
    ... condition called Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI) is often considered part of the GEFS+ spectrum and is the most severe disorder in this group. Affected ... include myoclonic or absence seizures. In Dravet syndrome, these seizures ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  3. Juvenile myoclonic epilepsy 
    ... several members of a large family with juvenile myoclonic epilepsy. The GABRA1 gene ... After infancy, the influx of chloride ions creates an environment ...
    https://medlineplus.gov/.../condition/juvenile-myoclonic-epilepsy - Genetics
  4. SCN8A-related epilepsy with encephalopathy 
    ... and symptoms of this condition typically begin in infancy.The seizures in ... (myoclonic seizures), or loss of consciousness with muscle rigidity ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  5. GABRA1 gene 
    ... identified in at least one family with juvenile myoclonic epilepsy. This condition typically begins in childhood or adolescence ... GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002 Jun;31(2):184-9. ...
    https://medlineplus.gov/genetics/gene/gabra1 - Genetics
  6. Cerebral folate transport deficiency 
    ... A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  7. Dentatorubral-pallidoluysian atrophy 
    ... s mother (maternal inheritance). DRPLA Haw River syndrome Myoclonic epilepsy with choreoathetosis Naito-Oyanagi disease NOD Genetic Testing ...
    https://medlineplus.gov/.../dentatorubral-pallidoluysian-atrophy - Genetics
  8. TBC1D24 gene 
    ... people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  9. Mitochondrial DNA 
    ... TS1, can cause the signs and symptoms of myoclonic epilepsy with ragged-red fibers (MERRF). These genes provide ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  10. Farber lipogranulomatosis 
    ... Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep;41(9):1469-1487. ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
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