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Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.
Brain : a Journal of Neurology|September 10, 2013
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1ADalia Kasperaviciute, Claudia B Catarino, Mar Matarin, et al.
Brain : a Journal of Neurology|August 11, 2022
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection studyHannah Spitzer, Mathilde Ripart, Kirstie Whitaker, et al.
JAMA Neurology|February 24, 2025
Detection of Epileptogenic Focal Cortical Dysplasia Using Graph Neural Networks: A MELD StudyMathilde Ripart, Hannah Spitzer, Logan Z J Williams, et al.
Human Brain Mapping|May 30, 2020
The ENIGMA-Epilepsy working group: Mapping disease from large data setsSanjay M Sisodiya, Christopher D Whelan, Sean N Hatton, et al.
European Journal of Human Genetics : EJHG|June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterizationCamille Engel, Michaela Rendek, Jessica Assoumani, et al.
Nature Communications|July 27, 2022
Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expressionSara Larivière, Jessica Royer, Raúl Rodríguez-Cruces, et al.
Epilepsia|January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variantsSebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
Brain : a Journal of Neurology|August 21, 2020
White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy studySean N Hatton, Khoa H Huynh, Leonardo Bonilha, et al.
Brain : a Journal of Neurology|April 6, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disordersMarkus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, et al.
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