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Results 1 - 10 of 33 for Developmental epileptic "encephalopathy," 2
  1. CDKL5 deficiency disorder 
    ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National Organization ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  2. SMC1A gene 
    ... is on the X chromosome, one of the two sex chromosomes.) This condition, called developmental and epileptic encephalopathy-85 with or without midline brain defects (or ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  3. STXBP1 encephalopathy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... Clinical spectrum, disease mechanisms, and therapeutic strategies. J Neurochem. 2021 Apr;157(2):165-178. doi: 10.1111/jnc.15120. Epub ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  4. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. ... B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene. 2000 Jan 25;242(1-2):65-73. doi: 10.1016/s0378-1119(99) ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  5. CACNA1A gene 
    ... Ca2+ channels. J Cell Physiol. 2008 Feb;214(2):422-33. doi: 10.1002/jcp.21216. ... encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  6. 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
  7. Epilepsy-aphasia spectrum 
    ... family. Acquired aphasia with epilepsy DEE/EE-SWAS Developmental and/or epileptic encephalopathy with spike-wave activation in Sleep Epilepsy with ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  8. KCNB1 encephalopathy 
    ... infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 Developmental and epileptic encephalopathy 26 National Organization ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  9. 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
  10. 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
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