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Neurology|August 30, 2019
Efficacy and tolerability of adjunctive lacosamide in pediatric patients with focal seizuresViktor Farkas, Barbara Steinborn, J Robert Flamini, et al.
Frontiers in Neurology|April 1, 2022
Impaired Color Recognition in HCN1 Epilepsy: A Single Case ReportChaseley E Mckenzie, Chen-Jui Ho, Ian C Forster, et al.
Annals of Neurology|October 1, 2008
Developmental impact of a familial GABAA receptor epilepsy mutationCindy Chiu, Christopher A Reid, Heneu O Tan, et al.
European Journal of Human Genetics : EJHG|May 16, 2025
Understanding speech and language in KIF1A-associated neurological disorderLottie D Morison, Adam P Vogel, John Christodoulou, et al.
Brain : a Journal of Neurology|January 7, 2005
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mappingSamuel F Berkovic, Aziz Mazarib, Simri Walid, et al.
Translational Psychiatry|May 6, 2020
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsyKristy L Kolc, Lynette G Sadleir, Christel Depienne, et al.
Neurology|June 28, 2015
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutationsLaura Canafoglia, Isabella Gilioli, Federica Invernizzi, et al.
European Journal of Human Genetics : EJHG|February 23, 2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsMichael Field, Ingrid E Scheffer, Deepak Gill, et al.
Brain Communications|June 2, 2023
Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathyChaseley E McKenzie, Ian C Forster, Ming S Soh, 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.
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