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Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|August 9, 2015
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological ApproachRagna S Boerma, Kees P Braun, Marcel P H van den Broek, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusMagdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, et al.
European Journal of Medical Genetics|December 7, 2007
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the NetherlandsHester Y Kroes, Patrick H A van Zon, Dietje Fransen van de Putte, et al.
American Journal of Medical Genetics|September 5, 2002
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1Thomas Sander, Christine Windemuth, Herbert Schulz, et al.
Epilepsia|October 24, 2006
Exploration of the genetic architecture of idiopathic generalized epilepsiesAnne Hempelmann, Kirsten P Taylor, Armin Heils, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Structural genomic variation in childhood epilepsies with complex phenotypesIngo Helbig, Marielle E M Swinkels, Emmelien Aten, et al.
Epilepsia|February 13, 2003
Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12Thomas Sander, Christine Windemuth, Herbert Schulz, et al.
Epilepsia Open|March 15, 2019
A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepineBianca Berghuis, Caragh Stapleton, Anja C M Sonsma, et al.
Neurology|July 24, 2015
Effect of vaccinations on seizure risk and disease course in Dravet syndromeNienke E Verbeek, Nicoline A T van der Maas, Anja C M Sonsma, et al.
Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
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