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Results 1 - 6 of 6 for Developmental epileptic "encephalopathy," 16
  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. 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
  3. 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
  4. GRIN2A gene 
    ... of speech and language skills and sometimes other developmental skills; and in many cases, recurrent seizures (epilepsy). Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS) ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  5. TBC1D24 gene 
    ... in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of infancy 16). These mutations likely result in impairment of TBC1D24 ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  6. PURA gene 
    ... in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 ... delays, distinctive facial features, and delayed myelination. Am ...
    https://medlineplus.gov/genetics/gene/pura - Genetics