Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004.
Although initially considered a variant of Rett syndrome, CDD is now recognised as an …

Epilepsies of early childhood are frequently resistant to therapy and often associated with
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …

Abstract Mutations in Munc18‐1/STXBP1 (syntaxin‐binding protein 1) are linked to various
severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous …

Background and Objectives Clinical manifestations in STXBP1 developmental and epileptic
encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse …

Migraine is a common neurological disorder which affects 15–20% of the population; it has a
high socioeconomic impact through treatment and loss of productivity. Current forms of …

This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …

The developmental and epileptic encephalopathies (DEEs) are the most severe group of
epilepsies. They usually begin in infancy or childhood with drug-resistant seizures …

Our current knowledge of genetically determined forms of epilepsy has shortened the
diagnostic pathway usually experienced by the families of infants diagnosed with early …

Exome and genome sequencing have proven to be effective tools for the diagnosis of
neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to …