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Journal of Autism and Developmental Disorders, ISSN 0162-3257, 1/2013, Volume 43, Issue 1, pp. 68 - 79
Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high... 
Pediatrics | Autism | Child and School Psychology | Neurosciences | Public Health | GABA A receptor | Synaptogenesis | Psychology | Epilepsy | Brain development | Co-morbidity | receptor | GABA
Journal Article
JAMA Neurology, ISSN 2168-6149, 08/2016, Volume 73, Issue 8, pp. 1009 - 1016
Journal Article
JAMA Neurology, ISSN 2168-6149, 08/2016, Volume 73, Issue 8, p. 1009
Journal Article
JAMA Neurology, ISSN 2168-6149, 08/2016, Volume 73, Issue 8, p. 1009
  In this review article, we focus on the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the inhibitory... 
Proteins | Brain | Convulsions & seizures | Epilepsy | Mutation | Apoptosis
Journal Article
JAMA neurology, ISSN 2168-6149, 8/2016, Volume 73, Issue 8, pp. 1009 - 1016
The GABA A receptor γ2 subunit gene GABRG2 is abundantly expressed in the mammalian brain and its encoded γ2 subunit is assembled into αβγ2 receptors, which... 
Epilepsy | absence seizure | Dravet syndrome | GEFS | Mutation | febrile seizure | GABAA receptor subunits | GABRG2 subunit
Journal Article
JAMA Neurology, ISSN 2168-6149, 08/2016, Volume 73, Issue 8, pp. 1009 - 1009
In this review article, we focus on the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the inhibitory gamma... 
Journal Article
Epilepsy Research, ISSN 0920-1211, 08/2019, Volume 154, pp. 8 - 12
Anti-seizure drugs (ASDs) are widely used and known to increase inhibitory tone on neuro-circuits and reduce aberrant synchronous firing in epilepsy. Some ASDs... 
GABRG2(Q390X) mutation | Stiripentol | Electroencephalogram | Epilepsy | Dravet syndrome | Benzodiazepine
Journal Article
Epilepsy Research, ISSN 0920-1211, 08/2019, Volume 154, p. 8
Anti-seizure drugs (ASDs) are widely used and known to increase inhibitory tone on neuro-circuits and reduce aberrant synchronous firing in epilepsy. Some ASDs... 
Gene mutations | Encephalopathy | Analysis | Epilepsy | Electroencephalography | Seizures (Medicine) | Health aspects | Antianxiety agents
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 01/2013, Volume 43, Issue 1, p. 68
Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high... 
Autism | Care and treatment | Receptors | Epilepsy | Analysis | GABA | Diagnosis
Journal Article
The Journal of Physiology, ISSN 0022-3751, 06/2010, Volume 588, Issue 11, pp. 1861 - 1869
Mutations in inhibitory GABA A receptor subunit genes ( GABRA1 , GABRB3 , GABRG2 and GABRD ) have been associated with genetic epilepsy syndromes including... 
Mutation - physiology | Animals | Frameshift Mutation | Humans | Receptors, GABA-A - genetics | Receptors, GABA-A - physiology | Epilepsy - genetics | Epilepsy - physiopathology | Mutation - genetics | Mutation, Missense - genetics | Epilepsy | Mutation | Special Section Reviews | Neurological Channelopathies
Journal Article
Trends in Molecular Medicine, ISSN 1471-4914, 2009, Volume 15, Issue 9, pp. 430 - 438
Nonsense mutations that generate premature translation–termination codons (PTCs) are responsible for approximately one- third of human genetic diseases. PTCs... 
Pathology | Nonsense | Premature translation-termination codons (PTCs) | Mutation | Epilepsy | GABAA receptor subunits
Journal Article
Epilepsia, ISSN 0013-9580, 12/2012, Volume 53, pp. 59 - 70
Summary Previous studies from our and other groups have demonstrated that the majority of [gamma]-aminobutyric acid (GABA) sub(A) receptor subunit mutations... 
Cell surface
Journal Article
Journal of Cerebral Blood Flow & Metabolism, ISSN 0271-678X, 3/2003, Volume 23, Issue 3, pp. 320 - 330
Erythropoietin (EPO) plays a prominent role in the regulation of the hematopoietic system, but the potential function of this trophic factor as a... 
Apoptosorne | Caspase-3 | Apoptosis | Bcl-2 family | Mitochondrial membrane potential | Phosphatidylserine exposure
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2016, Volume 25, Issue 15, pp. 3192 - 3207
Journal Article
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