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Familial infantile myoclonic epilepsy
Did you mean Familial infantile mayoclinic epilepsy?
- ... identified in people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations ...
- Seizures (National Library of Medicine)Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often ...
- Epilepsy (National Library of Medicine)Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out ...
- ... JL. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet ...
- ... mitochondrial gene and occurs in people with no family history of MERRF. Fukuhara disease MERRF MERRF syndrome Myoclonic epilepsy associated with ragged-red fibers Myoencephalopathy ragged-red ...
- ... diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with ...
- ... with no history of the disorder in their family. Early infantile epileptic encephalopathy 26 EIEE26 Epileptic encephalopathy, early infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 ...
- ... begin in infancy.The seizures in SCN8A-related epilepsy with encephalopathy ... (myoclonic seizures), or loss of consciousness with muscle rigidity ...
- ... with no history of the disorder in their family. ... with epilepsy STXBP1 epileptic encephalopathy STXBP1-related developmental and epileptic ...
- Spinal Muscular Atrophy (National Library of Medicine)What is spinal muscular atrophy (SMA)? Spinal muscular atrophy (SMA) is a group of genetic diseases that damages and kills motor neurons. Motor neurons ...