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Results 1 - 10 of 26 for Developmental epileptic "encephalopathy," 4
  1. STXBP1 encephalopathy 
    ... Genetic Testing Registry: Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy 4 National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  2. KCNB1 encephalopathy 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Citation on PubMed Bar C, Kuchenbuch M, Barcia ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  3. CACNA1A gene 
    ... how both types of changes can lead to developmental and epileptic encephalopathy. APCA brain calcium channel 1 CAC1A_HUMAN CACNL1A4 calcium channel, alpha 1A subunit calcium channel, L type, alpha-1 polypeptide, isoform 4 calcium channel, voltage-dependent, P/Q type, alpha ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  4. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Citation on PubMed de Kovel CGF, Syrbe S, ...
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  5. ARX gene 
    ... neurons. ... normal ARX protein contains four regions where a protein building block (amino acid) ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  6. GRIN2B-related neurodevelopmental disorder 
    ... GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  7. 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
  8. CHD2 myoclonic encephalopathy 
    ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  9. 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
  10. Epilepsy and Seizures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Seizures/Start Here ... Seizures ... Epilepsy/Start Here ... Epilepsy ... Epilepsy is a chronic brain disorder in which groups of nerve cells, or neurons, in the brain sometimes ...
    https://www.ninds.nih.gov/.../disorders/epilepsy-and-seizures - External Health Links
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