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Results 1 - 10 of 12 for Developmental epileptic "encephalopathy," 13
  1. SCN8A-related epilepsy with encephalopathy 
    ... encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing Registry: Developmental and epileptic encephalopathy, 13 Developmental and epileptic encephalopathy 13 National Organization for ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  2. CACNA1A gene 
    ... to seizures and ataxia in people with 19p13.13 deletion syndrome. More About This Health Condition Variants in the CACNA1A gene can also cause a form of developmental and epileptic encephalopathy, which is a group of conditions characterized by ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  3. CDKL5 deficiency disorder 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... Genetics. Mol Syndromol. 2012 Apr;2(3-5):137-152. doi: 10.1159/000331333. Epub 2011 Sep 13. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  4. Developmental and epileptic encephalopathy 1 
    Developmental and epileptic encephalopathy 1 (DEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. ... syndrome X-linked West syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 1 Genetic Testing Registry: West syndrome Infantile spasms ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  5. ARX gene 
    ... neurons. Mutations in the ARX gene can cause developmental and epileptic encephalopathy 1 (DEE1), a disorder characterized by recurrent seizures ... GENITALIA INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29 DEVELOPMENTAL AND EPILEPTIC ... ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  6. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  7. Lennox-Gastaut syndrome 
    ... Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  8. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  9. Genetic epilepsy with febrile seizures plus 
    ... GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet. 2004 Jul 1;13(13):1315-9. doi: 10.1093/hmg/ddh146. ... doi: 10.1111/epi.13649. Epub 2017 Jan 13. Citation on PubMed ... or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev. 2009 May; ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  10. 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
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