Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of
severe epilepsies accompanied by intellectual disability and other neurodevelopmental …

Purpose To define the phenotypic and mutational spectrum of epilepsies related to
DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator …

Objective We aimed to delineate the neurodevelopmental spectrum associated with
SYNGAP1 mutations and to investigate genotype–phenotype correlations. Methods We …

Objective To characterize the neurologic phenotypes associated with COL4A1/2 mutations
and to seek genotype–phenotype correlation. Methods We analyzed clinical, EEG, and …

Objective: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1),
encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype …

Objective Pathogenic variants in SCN 8A have been associated with a wide spectrum of
epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic …

Background Sanger sequencing, still the standard technique for genetic testing in most
diagnostic laboratories and until recently widely used in research, is gradually being …

Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the
spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature …

Objective Epilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy
characterized by eyelid myoclonia with or without absences, eye closure‐induced seizures …

Objective To explore the phenotypic spectrum of RHOBTB2-related disorders and
specifically to determine whether patients fulfill criteria for alternating hemiplegia of …