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The Lancet. Neurology|May 23, 2006
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective studySamuel F Berkovic, Louise Harkin, Jacinta M McMahon, 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.
Brain : a Journal of Neurology|April 22, 2014
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndromeChristopher A Reid, Bryan Leaw, Kay L Richards, 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.
Molecular Biology of the Cell|March 11, 2022
Septins guide noncentrosomal microtubules to promote focal adhesion disassembly in migrating cellsDaniel Merenich, Konstantinos Nakos, Taylor Pompan, et al.
Traffic (Copenhagen, Denmark)|April 29, 2006
Effects of dynactin disruption and dynein depletion on axonal microtubulesFridoon J Ahmad, Yan He, Kenneth A Myers, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|April 9, 2020
Parental health spillover effects of paediatric rare genetic conditionsYou Wu, Hareth Al-Janabi, Andrew Mallett, et al.
Acta Epileptologica|April 11, 2025
Exploring physiological beta-hydroxybutyrate level in children treated with the classical ketogenic diet for drug-resistant epilepsyXiaoying Qiao, Zimeng Ye, Jialun Wen, et al.
Epilepsia|March 19, 2009
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?Angelique E J Sijben, Pasiri Sithinamsuwan, Ashalata Radhakrishnan, et al.
American Journal of Medical Genetics. Part A|July 9, 2026
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC-Related DisorderDaniel Charouf, Andrea Accogli, Fadi F Hamdan, et al.
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