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Results 1 - 10 of 13 for Severe myoclonic epilepsy in infancy
Did you mean Severe mayoclinic epilepsy in infancy?
  1. SCN1A gene 
    ... conditions, such as Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI), that cause more serious seizures that ... T. 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 
    ... A 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 infants typically have ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  3. 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
  4. Dentatorubral-pallidoluysian atrophy 
    ... an earlier onset of the disorder and more severe signs and symptoms. This phenomenon is called anticipation. ... Genetic Testing ...
    https://medlineplus.gov/.../dentatorubral-pallidoluysian-atrophy - Genetics
  5. Phosphoglycerate dehydrogenase deficiency 
    ... movements, and speech (psychomotor retardation); and recurrent seizures ... are affected from infancy. Symptoms of the juvenile and adult types appear ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  6. Cerebral folate transport deficiency 
    ... the brain. Affected children have normal development during infancy, but ... severe, and some affected individuals need wheelchair assistance. Affected ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  7. Spinal muscular atrophy 
    ... diseases, such as spinal muscular atrophy with progressive myoclonic ... rarest and most severe form of the condition. Affected infants move less ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  8. STXBP1 encephalopathy 
    ... and symptoms of this condition typically begin in infancy but can start later in ... is often severe to profound. In addition, speech and motor skills, ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  9. Mitochondrial DNA 
    ... TS1, can cause the signs and symptoms of myoclonic epilepsy with ragged-red fibers (MERRF). These genes provide ... deletion of mitochondrial DNA causes Pearson syndrome. This severe ... it is often fatal in infancy or early childhood. The size and location of ...
    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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