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Results 1 - 9 of 9 for Developmental epileptic "encephalopathy," 80
  1. KCNB1 encephalopathy 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  2. KCNB1 gene 
    ... genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct ...
    https://medlineplus.gov/genetics/gene/kcnb1 - Genetics
  3. 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
  4. 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
  5. 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
  6. Microcephaly, seizures, and developmental delay 
    ... show signs and symptoms of the condition. EIEE10 Epileptic encephalopathy, early infantile, 10 MCSZ Genetic Testing Registry: Microcephaly, seizures, and developmental delay National Organization for Rare Disorders (NORD) MICROCEPHALY, ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  7. Pitt-Hopkins syndrome 
    ... are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  8. Asparagine synthetase deficiency 
    ... causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron. ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  9. Genetic epilepsy with febrile seizures plus 
    ... only febrile seizures, while another also has myoclonic epilepsy. While GEFS+ is usually diagnosed in ... most commonly associated gene is SCN1A. More than 80 percent of Dravet syndrome cases and about 10 ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics