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Brain : a Journal of Neurology|October 6, 2006
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutationsIngrid E Scheffer, Louise A Harkin, Bronwyn E Grinton, et al.
Annals of Neurology|May 21, 2013
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsyYuki Hitomi, Erin L Heinzen, Simona Donatello, et al.
Neurology. Genetics|December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severitySasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Annals of Neurology|March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineCarol J Milligan, Melody Li, Elena V Gazina, et al.
Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
American Journal of Human Genetics|March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial CalcificationXiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|October 3, 2022
"Generalized-to-focal" epilepsy: stereotactic EEG and high-frequency oscillation patternsNicolas von Ellenrieder, Francois Dubeau, Roy W. R. Dudley, et al.
Developmental Medicine and Child Neurology|March 21, 2022
Self-reported impact of developmental stuttering across the lifespanJessica O Boyce, Victoria E Jackson, Olivia van Reyk, et al.
Epilepsia|May 3, 2022
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and DefinitionsKate Riney, Alicia Bogacz, Ernest Somerville, et al.
Human Molecular Genetics|May 22, 2025
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variantsNeblina Sikta, Samuel Gooley, Timothy E Green, et al.
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