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Results 1 - 8 of 8 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. CACNA1C gene 
    ... Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset ... M. Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation ...
    https://medlineplus.gov/genetics/gene/cacna1c - Genetics
  3. 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
  4. 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
  5. 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
  6. 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
  7. PURA gene 
    ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95( ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  8. 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