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Results 1 - 10 of 12 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. CHD2 myoclonic encephalopathy 
    ... loss of acquired skills (developmental regression) following the onset of epilepsy. Some people with CHD2 myoclonic encephalopathy have autism spectrum disorders, which are conditions characterized ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  9. 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 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  10. Epilepsy-aphasia spectrum 
    ... begin in childhood, include Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep syndrome ( ... 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
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