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Results 1 - 10 of 15 for Developmental epileptic "encephalopathy," 21
  1. KCNB1 encephalopathy 
    ... Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Citation on PubMed de Kovel CGF, Syrbe S, ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  2. CHD2 myoclonic encephalopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94; DEE94 PubMed Lund C, Brodtkorb E, Oye AM, Rosby O, Selmer KK. CHD2 mutations in Lennox-Gastaut syndrome. Epilepsy Behav. 2014 Apr;33:18-21. doi: 10.1016/j.yebeh.2014.02.005. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  3. CACNA1A gene 
    ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  4. 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 ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - 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. 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. 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 ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - Genetics
  9. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. ... potassium channels. Antioxid Redox Signal. 2014 Aug 20;21(6):933-52. doi: ... mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. ...
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  10. SCN8A gene 
    ... Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3. ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
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