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Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Human Molecular Genetics|June 19, 2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsyEva M Reinthaler, Dennis Lal, Sebastien Lebon, et al.
Epilepsia|June 18, 2022
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progressJuliet K Knowles, Ingo Helbig, Cameron S Metcalf, et al.
International Journal of Molecular Sciences|October 30, 2020
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism PhenotypeKrysta J Trevis, Natasha J Brown, Cherie C Green, et al.
Neuron|January 5, 2018
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 EpilepsyDaniel T Pederick, Kay L Richards, Sandra G Piltz, et al.
Neurology. Genetics|August 12, 2024
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.
Developmental Medicine and Child Neurology|July 11, 2021
Genetic convergence of developmental and epileptic encephalopathies and intellectual disabilityGemma L Carvill, Sandra Jansen, Amy Lacroix, et al.
Brain : a Journal of Neurology|September 15, 2004
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorderAmanPreet Badhwar, Samuel F Berkovic, John P Dowling, et al.
Neurology|January 21, 2018
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansionJelle van den Ameele, Ivana Jedlickova, Anna Pristoupilova, et al.
Developmental Medicine and Child Neurology|December 24, 2019
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizuresIngrid E Scheffer, Katja E Boysen, Amy L Schneider, et al.
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