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Results 1 - 10 of 18 for Developmental epileptic "encephalopathy," 7
  1. ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
  2. ... family. Acquired aphasia with epilepsy DEE/EE-SWAS Developmental and/or epileptic encephalopathy with spike-wave activation in Sleep Epilepsy with ...
  3. ... 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 ...
  4. ... GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant ...
  5. ... encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing Registry: Developmental and epileptic encephalopathy, 13 SCN8A encephalopathy Disease InfoSearch National Organization for ...
  6. ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5 deficiency disorder Disease ...
  7. ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 Disease InfoSearch National Organization for Rare Disorders ( ...
  8. ... 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 ...
  9. ... 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 ...
  10. ... Gastaut syndrome. LGS Genetic Testing Registry: Macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome Disease InfoSearch National Organization for ...
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