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Epilepsia|June 4, 2011
Genomic microdeletions associated with epilepsy: not a contraindication to resective surgeryClaudia B Catarino, Dalia Kasperavičiūtė, Maria Thom, et al.
Epilepsy Research|July 30, 2015
Investigation of GRIN2A in common epilepsy phenotypesDennis Lal, Sandra Steinbrücker, Julian Schubert, et al.
Epilepsia|December 24, 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control studyEmanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, et al.
Human Molecular Genetics|February 19, 2015
Galanin pathogenic mutations in temporal lobe epilepsyMichel Guipponi, Amina Chentouf, Kristin E B Webling, et al.
Epilepsia|May 23, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disordersJohannes R Lemke, Erik Riesch, Tim Scheurenbrand, et al.
Neurogenetics|March 18, 2009
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsAlejandro Leal, Kathrin Huehne, Finn Bauer, et al.
Human Mutation|May 5, 2006
The spectrum of WRN mutations in Werner syndrome patientsShurong Huang, Lin Lee, Nancy B Hanson, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Plos Genetics|March 26, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMariella Simon, Elodie M Richard, Xinjian Wang, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.
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