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Results 1 - 6 of 6 for Neonatal epilepsy syndrome
  1. Permanent neonatal diabetes mellitus 
    ... recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but ...
    https://medlineplus.gov/.../permanent-neonatal-diabetes-mellitus - Genetics
  2. Episodic ataxia 
    ... Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol. 2016 ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics
  3. 5q31.3 microdeletion syndrome 
    ... history of the disorder in their family. Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Genetic Testing Registry: ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  4. PURA syndrome 
    ... family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related severe neonatal hypotonia- ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  5. Myoclonic epilepsy with ragged-red fibers 
    ... family history of MERRF. Fukuhara disease MERRF MERRF syndrome Myoclonic epilepsy associated with ragged-red fibers Myoencephalopathy ragged-red fiber disease Genetic Testing Registry: MERRF syndrome MERRF ... MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF PubMed Blakely ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  6. Farber lipogranulomatosis 
    ... Farber's disease Farber's lipogranulomatosis Farber-Uzman syndrome ... I, Carpentier S, Harzer K, Levade T, Ribeiro MG. Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics