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Proceedings of the National Academy of Sciences of the United States of America|July 16, 2008
Divergent sodium channel defects in familial hemiplegic migraineKristopher M Kahlig, Thomas H Rhodes, Michael Pusch, et al.
Brain : a Journal of Neurology|April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathiesGülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.
Lancet (London, England)|August 2, 2005
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraineMartin Dichgans, Tobias Freilinger, Gertrud Eckstein, et al.
British Journal of Pharmacology|August 2, 2003
Structural requisites of 2-(p-chlorophenoxy)propionic acid analogues for activity on native rat skeletal muscle chloride conductance and on heterologously expressed CLC-1Antonella Liantonio, Annamaria De Luca, Sabata Pierno, et al.
Pflugers Archiv : European Journal of Physiology|January 7, 2014
Structural basis of PI(4,5)P2-dependent regulation of GluA1 by phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP5K2A)Guiscard Seebohm, Eva Wrobel, Michael Pusch, et al.
Neurology. Genetics|February 3, 2026
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic EncephalopathyAnna Corradi, Antonella Riva, Bruno Sterlini, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 4, 2022
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathyMario Nappi, Vincenzo Barrese, Lidia Carotenuto, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Plos Biology|April 26, 2019
Structure of the human ClC-1 chloride channelKaituo Wang, Sarah Spruce Preisler, Liying Zhang, et al.
Human Mutation|April 3, 2007
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. OnlineKaate R J Vanmolkot, Elena Babini, Boukje de Vries, et al.
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