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Developmental epileptic encephalopathy 100
- ... with this condition can develop severe brain dysfunction (encephalopathy). Even though ... Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700,000 individuals. At least 100 ...
- Developmental and epileptic encephalopathy 1 (DEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. ... syndrome X-linked West syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 1 Genetic Testing Registry: West syndrome Infantile spasms ...
- ... GRIN2B encephalopathy GRIN2B related syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant ...
- ... partial seizures of infancy MMPSI Genetic Testing Registry: Developmental and epileptic encephalopathy, 14 Malignant migrating focal seizures of infancy National ...
- ... in a group of severe epilepsies known as developmental and epileptic encephalopathies. CPI-B CST6 cystatin B (stefin B) EPM1 ...
- Epilepsy and Seizures (National Institute of Neurological Disorders and Stroke)Epilepsy is a chronic brain disorder in which groups of nerve cells, or neurons, in the brain sometimes send the wrong signals and cause seizures. Epilepsy ( ...
- ... by generating and transmitting electrical signals. More than 100 mutations in the SCN8A gene have been found to cause SCN8A-related epilepsy with encephalopathy. This condition is characterized by recurrent seizures (epilepsy), ...
- ... mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25. Erratum In: Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016. ...
- ... L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
- ... Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res. 2012 Jul;100(3):272-7. doi: 10.1016/j.eplepsyres. ...