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Results 1 - 10 of 12 for Developmental epileptic "encephalopathy," 4
  1. STXBP1 encephalopathy 
    ... history of the disorder in their family. DEE4 Developmental and epileptic encephalopathy 4 Developmental and epileptic encephalopathy, type 4 Early-infantile ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  2. KCNB1 encephalopathy 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Citation on PubMed Bar C, Kuchenbuch M, Barcia ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  3. GRIN2B-related neurodevelopmental disorder 
    ... GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  4. CDKL5 deficiency disorder 
    ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  5. CHD2 myoclonic encephalopathy 
    ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  6. Lennox-Gastaut syndrome 
    ... mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  7. Pyridoxal phosphate-responsive seizures 
    ... 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. Citation on PubMed Khayat ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  8. Pyridoxine-dependent epilepsy 
    ... with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700, ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  9. Mitochondrial complex I deficiency 
    ... have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  10. GLUT1 deficiency syndrome 
    ... than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
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