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Results 1 - 10 of 51 for Neonatal seizure
  1. Benign familial neonatal seizures 
    Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually ...
    https://medlineplus.gov/.../benign-familial-neonatal-seizures - Genetics
  2. 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: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  3. KCNQ2 gene 
    ... been identified in most people with benign familial neonatal seizures (BFNS), a condition characterized by recurrent seizures (epilepsy) ... the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations. ...
    https://medlineplus.gov/genetics/gene/kcnq2 - Genetics
  4. KCNQ3 gene 
    ... been identified in some people with benign familial neonatal seizures (BFNS), a condition characterized by recurrent seizures in ... the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations. ...
    https://medlineplus.gov/genetics/gene/kcnq3 - Genetics
  5. PURA syndrome 
    ... family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related severe ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  6. Chromosome 5 
    ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  7. PURA gene 
    ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  8. Gyrate atrophy of the choroid and retina 
    ... hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  9. HSD10 disease 
    ... the neonatal type. Males with the infantile or neonatal type frequently have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and vision loss that gradually gets worse. ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  10. Permanent neonatal diabetes mellitus 
    ... to thrive).In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and ...
    https://medlineplus.gov/.../permanent-neonatal-diabetes-mellitus - Genetics
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