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Results 1 - 10 of 19 for Early onset epileptic encephalopathy
  1. STXBP1 encephalopathy 
    ... Early Onset Epilepsy AND Encephalopathy, or is it Early Onset Epileptic Encephalopathy? Epilepsy Curr. 2016 Sep-Oct;16(5):302- ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  2. KCNQ2 gene 
    ... in the KCNQ2 gene are also involved in early-onset epileptic encephalopathy, a more severe condition than BFNS (described above) ... been suggested that KCNQ2 gene mutations that cause early-onset epileptic encephalopathy lead to production of an abnormal KCNQ2 protein ...
    https://medlineplus.gov/genetics/gene/kcnq2 - Genetics
  3. SLC35A2-congenital disorder of glycosylation 
    ... M, Matsumoto N, Imai K. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features ... in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013 Dec;34(12):1708-14. ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  4. SLC35A2 gene 
    ... M, Matsumoto N, Imai K. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features ... in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013 Dec;34(12):1708-14. ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
  5. Pyridoxal phosphate-responsive seizures 
    ... J. Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb;30(1): ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  6. 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
  7. SCN8A-related epilepsy with encephalopathy 
    ... no history of the disorder in their family. Early infantile epileptic encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing Registry: Developmental ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  8. CDKL5 deficiency disorder 
    ... disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013 Mar;21(3): ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  9. Developmental and epileptic encephalopathy 1 
    ... their sons. Early infantile epileptic encephalopathy-1 EIEE1 Epileptic encephalopathy, early infantile, 1 Infantile epileptic-dyskinetic encephalopathy ISSX ISSX1 ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  10. TWNK gene 
    ... Suomalainen A, Lonnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain. 2007 Nov;130(Pt ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
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