Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
The current landscape of epilepsy genetics: where are we, and where are we going?
New approaches to gene discovery and characterization are advancing rapidly our
understanding of the genetic and phenotypic architecture of the epilepsies. This review …
understanding of the genetic and phenotypic architecture of the epilepsies. This review …
SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions
A Kádková, J Murach, M Østergaard, A Malsam… - Elife, 2024 - elifesciences.org
SNAP25 is one of three neuronal SNAREs driving synaptic vesicle exocytosis. We studied
three mutations in SNAP25 that cause epileptic encephalopathy: V48F, and D166Y in the …
three mutations in SNAP25 that cause epileptic encephalopathy: V48F, and D166Y in the …
Delineating clinical and developmental outcomes in STXBP1-related disorders
STXBP1-related disorders are among the most common genetic epilepsies and
neurodevelopmental disorders. However, the longitudinal epilepsy course and …
neurodevelopmental disorders. However, the longitudinal epilepsy course and …
SCN1A gain‐of‐function mutation causing an early onset epileptic encephalopathy
Objective Loss‐of‐function variants in SCN1A cause Dravet syndrome, the most common
genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence …
genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence …
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
Background and Objectives Clinical manifestations in STXBP1 developmental and epileptic
encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse …
encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse …
Enriching representation learning using 53 million patient notes through human phenotype ontology embedding
Abstract The Human Phenotype Ontology (HPO) is a dictionary of> 15,000 clinical
phenotypic terms with defined semantic relationships, developed to standardize phenotypic …
phenotypic terms with defined semantic relationships, developed to standardize phenotypic …
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
Heterozygous pathogenic variants in DNM1 cause developmental and epileptic
encephalopathy (DEE) as a result of a dominant-negative mechanism impeding vesicular …
encephalopathy (DEE) as a result of a dominant-negative mechanism impeding vesicular …
Clinical trials for Lennox–Gastaut syndrome: Challenges and priorities
Abstract Objective: Lennox‐Gastaut syndrome (LGS) is a severe, childhood‐onset epilepsy
that is typically refractory to treatment. We surveyed the current landscape of LGS treatment …
that is typically refractory to treatment. We surveyed the current landscape of LGS treatment …
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery
Making a specific diagnosis in neurodevelopmental disorders is traditionally based on
recognizing clinical features of a distinct syndrome, which guides testing of its possible …
recognizing clinical features of a distinct syndrome, which guides testing of its possible …