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Results 1 - 8 of 8 for Epileptic "encephalopathy," early "infantile," 28
  1. CDKL5 deficiency disorder 
    ... disorder CDKL5 encephalopathy CDKL5-related epilepsy CDKL5-related epileptic encephalopathy Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  2. TBC1D24 gene 
    ... been identified 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
  3. SCN8A gene 
    ... Miyake N, Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014 ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  4. Infantile-onset spinocerebellar ataxia 
    ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20. Citation on PubMed Lonnqvist T. Infantile-Onset Spinocerebellar Ataxia. 2009 Jan 27 [updated 2018 ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  5. Lennox-Gastaut syndrome 
    ... and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018 Nov;17(8):e12456. doi: 10.1111/gbb.12456. Epub 2018 Jan 26. Citation on PubMed
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  6. TWNK gene 
    ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset ... in early onset encephalopathy with mtDNA depletion. Brain. 2007 Nov;130(Pt ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  7. CACNA1A gene 
    ... can also cause a form of developmental and epileptic encephalopathy, which is a group of conditions characterized by ... epilepsy) and developmental delays. People with developmental and epileptic encephalopathy caused by CACNA1A gene variants often experience intellectual ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  8. Epilepsy and Seizures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Seizures/Start Here ... Seizures ... Epilepsy is a chronic brain disorder in which groups of nerve cells, or neurons, in the brain sometimes send the wrong signals ...
    https://www.ninds.nih.gov/.../disorders/epilepsy-and-seizures - External Health Links