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Li, Kuokuo; Fang, Zhenghuan; Zhao, Guihu; Li, Bin; Chen, Chao; Xia, Lu; Wang, Lin; Luo, Tengfei; Wang, Xiaomeng; Wang, Zheng; Zhang, Yi; Jiang, Yi; Pan, Qian; Hu, Zhengmao; Guo, Hui; Tang, Beisha; Liu, Chunyu; Sun, Zhongsheng; Xia, Kun; Li, Jinchen – Journal of Autism and Developmental Disorders, 2022
The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…
Descriptors: Mental Disorders, Genetics, Patients, Autism
Dravet, Charlotte – Developmental Medicine & Child Neurology, 2011
Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first described in France in 1978. Because the myoclonic component of this epilepsy is not always present and because some variability has been observed in the symptomatology, the name was changed to Dravet syndrome in 1989. The genetic aetiology of this epilepsy…
Descriptors: Epilepsy, Patients, Genetics, Foreign Countries
Woldbye, David P. D.; Angehagen, Mikael; Gotzsche, Casper R.; Elbrond-Bek, Heidi; Sorensen, Andreas T.; Christiansen, Soren H.; Olesen, Mikkel V.; Nikitidou, Litsa; Hansen, Thomas v. O.; Kanter-Schlifke, Irene; Kokaia, Merab – Brain, 2010
Gene therapy using recombinant adeno-associated viral vectors overexpressing neuropeptide Y in the hippocampus exerts seizure-suppressant effects in rodent epilepsy models and is currently considered for clinical application in patients with intractable mesial temporal lobe epilepsy. Seizure suppression by neuropeptide Y in the hippocampus is…
Descriptors: Reading Difficulties, Epilepsy, Seizures, Phonemic Awareness
Schaal, David W. – Behavior Analyst, 2012
This article presents an introduction to "The Behavior-Analytic Origins of Constraint-Induced Movement Therapy: An Example of Behavioral Neurorehabilitation," by Edward Taub and his colleagues (Taub, 2012). Based on extensive experimentation with animal models of peripheral nerve injury, Taub and colleagues have created an approach to overcoming…
Descriptors: Injuries, Behavior Disorders, Therapy, Genetics
Leventer, Richard J.; Jansen, Anna; Pilz, Daniela T.; Stoodley, Neil; Marini, Carla; Dubeau, Francois; Malone, Jodie; Mitchell, L. Anne; Mandelstam, Simone; Scheffer, Ingrid E.; Berkovic, Samuel F.; Andermann, Frederick; Andermann, Eva; Guerrini, Renzo; Dobyns, William B. – Brain, 2010
Polymicrogyria is one of the most common malformations of cortical development and is associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor dysfunction and speech disturbance. It has heterogeneous clinical manifestations and imaging patterns, yet large cohort data defining the clinical and imaging…
Descriptors: Age, Epilepsy, Mental Retardation, Seizures

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