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Annals of Neurology|January 26, 2012
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathySarah Weckhuysen, Simone Mandelstam, Arvid Suls, et al.
Epilepsia Open|August 24, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in TasmaniaTyson L Ware, Shannon R Huskins, Bronwyn E Grinton, et al.
Brain Communications|July 3, 2026
Late-onset epileptic spasms: presentation, aetiology and outcomeSameer Dal, Emma Macdonald-Laurs, Simone Mandelstam, et al.
Neurology|October 11, 2013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patientsSarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
Brain : a Journal of Neurology|May 27, 2017
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolismRadha Desai, Ann E Frazier, Romina Durigon, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
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