STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

H Stamberger, M Nikanorova, MH Willemsen… - Neurology, 2016 - AAN Enterprises
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

The role of genetic testing in epilepsy diagnosis and management

YG Weber, S Biskup, KL Helbig… - Expert review of …, 2017 - Taylor & Francis
Introduction: Epilepsy is a common neurological disorder characterized by recurrent
unprovoked seizures. More than 500 epilepsy-associated genes have been described in the …

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

M Wolff, KM Johannesen, UBS Hedrich, S Masnada… - Brain, 2017 - academic.oup.com
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1. 2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Current knowledge of SLC6A1-related neurodevelopmental disorders

K Goodspeed, E Pérez-Palma, S Iqbal… - Brain …, 2020 - academic.oup.com
Advances in gene discovery have identified genetic variants in the solute carrier family 6
member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy …

[HTML][HTML] Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

KL Helbig, KD Farwell Hagman, DN Shinde… - Genetics in …, 2016 - nature.com
Purpose: To assess the yield of diagnostic exome sequencing (DES) and to characterize the
molecular findings in characterized and novel disease genes in patients with epilepsy …

De novo variants in neurodevelopmental disorders with epilepsy

HO Heyne, T Singh, H Stamberger, R Abou Jamra… - Nature …, 2018 - nature.com
Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

K Platzer, H Yuan, H Schütz, A Winschel… - Journal of medical …, 2017 - jmg.bmj.com
Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz… - Neurology, 2016 - AAN Enterprises
Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

KM Johannesen, Y Liu, M Koko, CE Gjerulfsen… - Brain, 2022 - academic.oup.com
We report detailed functional analyses and genotype-phenotype correlations in 392
individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ …

[PDF][PDF] De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability

S Küry, GM van Woerden, T Besnard, MP Onori… - The American Journal of …, 2017 - cell.com
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …