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Results 1 - 9 of 9 for Developmental epileptic "encephalopathy," 14
  1. Malignant migrating partial seizures of infancy 
    ... partial seizures of infancy MMPSI Genetic Testing Registry: Developmental and epileptic encephalopathy, 14 Malignant migrating focal seizures of infancy National Organization ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - Genetics
  2. CDKL5 deficiency disorder 
    ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  3. Microcephaly, seizures, and developmental delay 
    ... show signs and symptoms of the condition. EIEE10 Epileptic encephalopathy, early infantile, 10 MCSZ Genetic Testing Registry: Microcephaly, seizures, and developmental delay National Organization for Rare Disorders (NORD) MICROCEPHALY, ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  4. Pyridoxal phosphate-responsive seizures 
    ... I, Hoffmann GF, Zschocke J, Clayton PT. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet. 2005 Apr 15;14(8):1077-86. doi: 10.1093/hmg/ddi120. ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  5. Lennox-Gastaut syndrome 
    ... epilepsy: Perspectives from parents. Epilepsia Open. 2019 Apr 14;4(2):293-301. doi: ... epilepsies: Focus on Lennox-Gastaut syndrome. Epilepsia. 2018 Nov; ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  6. Genetic epilepsy with febrile seizures plus 
    ... GB, Sutherland GR, Berkovic SF, Mulley JC. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology. 2002 May 14;58(9):1426-9. doi: 10.1212/wnl. ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  7. GABA-transaminase deficiency 
    GABA-transaminase deficiency is a ... excessive sleepiness (hypersomnolence). Affected babies may grow faster in length than ...
    https://medlineplus.gov/.../condition/gaba-transaminase-deficiency - Genetics
  8. 5q31.3 microdeletion syndrome 
    ... Testing Registry: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome ... the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi: 10.1186/s13039-015-0193- ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  9. Asparagine synthetase deficiency 
    ... developmental milestones often lose these skills over time (developmental ... seizures (epilepsy). Not all affected people experience the same type ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics