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Results 1 - 10 of 13 for "Epilepsy," "early-onset"
  1. Pyridoxine-dependent epilepsy 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4 PubMed Bok LA, ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  2. STXBP1 encephalopathy 
    ... Citation on PubMed Gupta A. STXBP1-Related EOEE - Early Onset Epilepsy AND Encephalopathy, or is it Early Onset Epileptic Encephalopathy? Epilepsy Curr. 2016 Sep-Oct;16( ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  3. KCNQ2 gene 
    ... in the KCNQ2 gene are also involved in early-onset epileptic encephalopathy, a more severe condition than BFNS (described above) characterized by epilepsy and profound intellectual disability. The seizures begin in ...
    https://medlineplus.gov/genetics/gene/kcnq2 - Genetics
  4. 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 and treatment for epilepsy. Brain Dev. 2017 Mar;39(3):256-260. ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  5. SLC35A2 gene 
    ... M, Matsumoto N, Imai K. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. Brain Dev. 2017 Mar;39(3):256-260. ...
    https://medlineplus.gov/genetics/gene/slc35a2 - Genetics
  6. Pyridoxal phosphate-responsive seizures 
    ... J. Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  7. CDKL5 deficiency disorder 
    ... disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013 Mar;21( ... H. CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  8. SCN8A gene 
    ... Miyake N, Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  9. CACNA1A gene 
    ... mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. Neurology. 2010 Sep 14;75( ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  10. Chromosome 14 
    ... stature, developmental delay, small hands and feet, and early onset of puberty. When both copies of the chromosome ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
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