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Results 1 - 10 of 33 for Infantile encephalopathy
  1. Aicardi-Goutières syndrome 
    ... Cree encephalitis Encephalopathy with basal ganglia calcification Familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. SCN8A-related epilepsy with encephalopathy 
    ... 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
  3. CDKL5 deficiency disorder 
    ... Cyclin-dependent kinase-like 5 deficiency disorder Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  4. Developmental and epileptic encephalopathy 1 
    ... pass X-linked traits to their sons. Early infantile epileptic encephalopathy-1 EIEE1 Epileptic encephalopathy, early infantile, 1 Infantile ... 1; DEE1 PubMed Hrachovy RA, Frost JD Jr. Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome). J Clin ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  5. KCNB1 encephalopathy 
    ... history of the disorder in their family. Early infantile epileptic encephalopathy 26 EIEE26 Epileptic encephalopathy, early infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  6. STXBP1 encephalopathy 
    ... 4 Developmental and epileptic encephalopathy, type 4 Early-infantile epileptic encephalopathy 4 EIEE4 STXBP1 encephalopathy with epilepsy STXBP1 epileptic ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  7. Malignant migrating partial seizures of infancy 
    ... embryonic development (called a de novo mutation). Early infantile epileptic encephalopathy 14 EIEE14 Malignant migrating partial epilepsy of infancy ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - Genetics
  8. Tyrosine hydroxylase deficiency 
    ... TH-deficient infantile parkinsonism or TH-deficient progressive infantile encephalopathy. These forms of the disorder appear soon after ... tyrosine hydroxylase deficiency (also called TH-deficient progressive infantile encephalopathy) is characterized by brain dysfunction that leads to ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  9. UNC80 deficiency 
    ... UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet. 2016 Jan 7;98( ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  10. SLC19A3 gene 
    ... described above). These include a disorder called early infantile lethal encephalopathy and another disorder that begins in early infancy ... reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013 May;136(Pt 5):1534-43. ...
    https://medlineplus.gov/genetics/gene/slc19a3 - Genetics
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