Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek, +152

Nature Communications

Epilepsy TherapiesGeneticsGenetic EpidemiologyMolecular GeneticsMonogenic Epilepsy Genes +20

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch, +107

The Lancet Neurology

Mendelian DisorderGenetic DisorderGeneticsNeuroscienceMonogenic Variants +1

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch‐Klupp, +12

Journal of Neurology

Cell-Cell Contact Formation Governs Ca2+ Signaling by TRPC4 in the Vascular Endothelium

Annarita Graziani, Michael Poteser, Wolfgang-Moritz Heupel, +6

Journal of Biological Chemistry

Frequency and clinical features of treatment-refractory myasthenia gravis

Jakob Rath, Ines Brunner, Matthias Tomschik, +6

Journal of Neurology

The TGF‐b/SOX4 axis and ROS‐driven autophagy co‐mediate CD39 expression in regulatory T‐cells

Marlene C. Gerner, Liesa S. Ziegler, Ralf Schmidt, +9

The FASEB Journal

Genetic variation in <i>CFH</i> predicts phenytoin-induced maculopapular exanthema in European-descent patients

Mark McCormack, Hongsheng Gui, Andrés Ingason, +36

Neurology

The first ankyrin-like repeat is the minimum indispensable key structure for functional assembly of homo- and heteromeric TRPC4/TRPC5 channels

Rainer Schindl, Irene Frischauf, Heike Kahr, +8

Cell Calcium

BiochemistryNatural SciencesHeteromeric Trpc4/trpc5 ChannelsMolecular BiologyFirst Ankyrin-like Repeat +2

Retinal and Corneal Neurodegeneration and Their Association with Systemic Signs of Peripheral Neuropathy in Type 2 Diabetes

Julia Häfner, Markus Zadrazil, Anna Grisold, +5

American Journal of Ophthalmology

Corneal NeurodegenerationDiabetic RetinopathyPeripheral NeuropathyPeripheral NervesRetina +10

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, +166

Nature Genetics