Results 1 -
10
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17
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Developmental epileptic "encephalopathy," 3
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2 PubMed Bahi-Buisson N, Bienvenu T. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol. 2012 Apr;2(3-5):137-152. doi: 10.1159/000331333. Epub ...
- ... history of the disorder in their family. DEE4 Developmental and epileptic encephalopathy 4 Developmental and epileptic encephalopathy, type 4 Early-infantile epileptic encephalopathy 4 EIEE4 ...
- ... family. Acquired aphasia with epilepsy DEE/EE-SWAS Developmental and/or epileptic encephalopathy with spike-wave activation in Sleep Epilepsy with ...
- ... infantile, 26 KCNB1-related epilepsy Genetic Testing Registry: Developmental and epileptic encephalopathy, 26 Developmental and epileptic encephalopathy 26 National Organization ...
- ... encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing Registry: Developmental and epileptic encephalopathy, 13 Developmental and epileptic encephalopathy 13 National Organization ...
- ... encephalopathy CHD2-related neurodevelopmental disorders Genetic Testing Registry: Developmental and epileptic encephalopathy 94 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... 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, ...
- ... MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016 Mar;15(3):304-16. doi: 10.1016/S1474-4422(15) ...
- ... with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700, ...
- ... are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. ...