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Results 1 - 6 of 6 for Developmental epileptic "encephalopathy," 45
  1. KCNB1 gene 
    ... brain, allowing communication between these cells. ... seizures (epilepsy), and developmental delay.Most KCNB1 gene mutations change single protein ...
    https://medlineplus.gov/genetics/gene/kcnb1 - 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 ... in acquired epileptic aphasia and related childhood focal epilepsies and ... dysfunction. Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. ...
    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 DEVELOPMENTAL AND EPILEPTIC ... ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  4. CSTB gene 
    ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  5. GRIN2A gene 
    ... in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  6. Pitt-Hopkins syndrome 
    ... 16 novel patients. J Med Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26. Citation on PubMed
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics