Arvid Suls

Unraveling the Immune Signature of Herpes Zoster: Insights Into the Pathophysiology and Human Leukocyte Antigen Risk Profile

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Early and effective treatment of <i> <scp>KCNQ</scp> 2 </i> encephalopathy

The phenotypic spectrum of <i>SCN8A</i> encephalopathy

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Reduction of seizure frequency after epilepsy surgery in a patient with <scp><i>STXBP1</i></scp> encephalopathy and clinical description of six novel mutation carriers

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies