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Epilepsy & Behavior Case Reports|June 14, 2019
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsiesChristelle Moufawad El Achkar, Beth Rosen Sheidley, Declan O'Rourke, et al.Epilepsia|October 3, 2025
Time to genetic testing in Dravet syndrome: Trends, barriers, and opportunities for improvementRoss A Carson, John E Maldonado Pacheco, Christina Briscoe Abath, et al.Journal of Child Neurology|November 1, 2016
De Novo TUBB2A Variant Presenting With Anterior Temporal PachygyriaLance H Rodan, Christelle Moufawad El Achkar, Gerard T Berry, et al.Molecular Psychiatry|February 16, 2022
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunitDustin J Hines, April Contreras, Betsua Garcia, et al.Molecular Genetics and Metabolism|December 28, 2017
Characterization of a novel variant in siblings with Asparagine Synthetase DeficiencyStephanie J Sacharow, Elizabeth E Dudenhausen, Carrie L Lomelino, et al.Annals of Neurology|July 22, 2014
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndromeMatthew F Pescosolido, David M Stein, Michael Schmidt, et al.Neurology. Genetics|December 19, 2022
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 RegionChristelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, et al.Annals of Neurology|April 3, 2019
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanismAndrew B Stergachis, Jonai Pujol-Giménez, Gergely Gyimesi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.JAMA Network Open|July 20, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsyHyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, et al.Pageof 2