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Developmental epileptic "encephalopathy," 14
- ... partial seizures of infancy MMPSI Genetic Testing Registry: Developmental and epileptic encephalopathy, 14 Malignant migrating focal seizures of infancy National Organization ...
- ... of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Epilepsia. ...
- ... 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 ...
- ... Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and epileptic encephalopathy, 2 Atypical Rett syndrome CDKL5-deficiency disorder National ...
- Developmental Disabilities (National Library of Medicine)Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
- ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ... PubMed Lehesjoki AE. Molecular background of progressive myoclonus ... early developmental delay, and severe dyskinesia. Neurology. 2016 Mar 1; ...
- Epilepsy (National Library of Medicine)Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out ...
- ... 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, ...
- ... encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013 Dec;34(12):1708-14. doi: 10.1002/humu.22446. Epub 2013 Oct ...
- ... 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) ...