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American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2879 - 2884
Journal Article
BRAIN & DEVELOPMENT, ISSN 0387-7604, 02/2018, Volume 40, Issue 2, pp. 130 - 133
We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory... 
Early-onset epileptic encephalopathy | CACNAIA | CEREBELLAR | MUTATIONS | Hyperekplexia | CLINICAL NEUROLOGY
Journal Article
Pediatric Neurology Briefs, ISSN 1043-3155, 12/2010, Volume 24, Issue 12, pp. 89 - 90
Researchers at the Department of Molecular Genetics, University of Antwerp, and other centers in Belgium, The Netherlands, and Melbourne, Australia, analyzed... 
Early-Onset Epileptic Encephalopathy | Early Myoclonic Encephalopathy | Ohtahara Syndrome
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 10/2019, Volume 71, pp. 20 - 23
Early myoclonic encephalopathy (EME) is a form of developmental and epileptic encephalopathy with myoclonic seizures and a suppression burst on... 
Early-onset epileptic encephalopathy with suppression burst | Refractory seizure | Intractable epilepsy | Early myoclonic encephalopathy | Perampanel | SCN1A | VARIANTS | EFFICACY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | TOLERABILITY | ADOLESCENTS
Journal Article
Epilepsia, ISSN 0013-9580, 12/2015, Volume 56, Issue 12, pp. 1931 - 1940
Journal Article
by Xie, H and Su, WT and Pei, JR and Zhang, YJ and Gao, K and Li, JL and Ma, XW and Zhang, YH and Wu, XR and Jiang, YW
EPILEPSY RESEARCH, ISSN 0920-1211, 08/2019, Volume 154, pp. 55 - 61
This study aimed to identify monogenic mutations from Chinese patients with childhood absence epilepsy (CAE) and summarize their characteristics. A total of... 
VARIANTS | SLC2A1 | CLCN2 | CACNA1H | CLINICAL NEUROLOGY | FAMILY | SWISS-MODEL | Childhood absence epilepsy | GENE | SCN8A | EARLY-ONSET | ASSOCIATION | EPILEPTIC ENCEPHALOPATHY | SCN1A
Journal Article
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 06/2018, Volume 176, Issue 6, pp. 1280 - 1281
Early-onset epileptic encephalopathies (EOEEs) are a genetically heterogeneous collection of severe epilepsies often associated with psychomotor regression.... 
SZT2 | GENETICS & HEREDITY | leukoencephalopathy | myelination | early-onset epileptic encephalopathy | whole exome sequencing
Journal Article
Epilepsia open, ISSN 2470-9239, 12/2018, Volume 3, Issue 4, pp. 524 - 527
Early onset epileptic encephalopathy (EOEE) has been used to encompass Ohtahara syndrome (early infantile epileptic encephalopathy [EIEE]), early myoclonic... 
Journal Article
Journal Article