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Results 1 - 10 of 18 for Developmental epileptic "encephalopathy," 7
  1. CACNA1A gene 
    ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  2. Epilepsy-aphasia spectrum 
    ... family. Acquired aphasia 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
  3. ARX gene 
    ... neurons. Mutations in the ARX gene can cause developmental and epileptic encephalopathy 1 (DEE1), a disorder characterized by recurrent seizures ... GENITALIA INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; XLID29 ... ENCEPHALOPATHY 1; DEE1 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  4. 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
  5. SCN8A-related epilepsy with encephalopathy 
    ... encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing Registry: Developmental and epileptic encephalopathy, 13 SCN8A encephalopathy Disease InfoSearch National Organization for ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  6. CDKL5 deficiency disorder 
    ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5 deficiency disorder Disease ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  7. CHD2 myoclonic encephalopathy 
    ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 Disease InfoSearch National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  8. SMC1A gene 
    ... of the two sex chromosomes.) This condition, called developmental and epileptic encephalopathy-85 with or without midline brain defects (or DEE85), appears to affect only females. Affected individuals develop severe, ... impairments. These individuals can also have distinctive facial ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  9. SCN8A gene 
    ... Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub ...
    https://medlineplus.gov/genetics/gene/scn8a - Genetics
  10. Lennox-Gastaut syndrome 
    ... Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome Disease InfoSearch National Organization for ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
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