[HTML][HTML] The landscape of epilepsy-related GATOR1 variants

S Baldassari, F Picard, NE Verbeek… - Genetics in …, 2019 - nature.com
Purpose To define the phenotypic and mutational spectrum of epilepsies related to
DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator …

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+ …

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

G Gazdagh, D Hunt, AMC Gonzalez… - American Journal of …, 2023 - Wiley Online Library
The TRIO gene encodes a rho guanine exchange factor, the function of which is to
exchange GDP to GTP, and hence to activate Rho GTPases, and has been described to …

[HTML][HTML] The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

P Zacher, T Mayer, F Brandhoff, T Bartolomaeus… - Genetics in …, 2021 - nature.com
Purpose Genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) are
predominantly applied in children, thus limited information is available regarding adults or …

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

LH Rodan, RC Spillmann, HT Kurata… - Genetics in …, 2021 - nature.com
Purpose CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium
channel expressed in human heart and brain. Heterozygous variants in CACNA1C have …

Parental mosaicism in epilepsies due to alleged de novo variants

RS Møller, N Liebmann, LHG Larsen, M Stiller… - …, 2019 - Wiley Online Library
Severe early onset epilepsies are often caused by de novo pathogenic variants. Few studies
have reported the frequency of somatic mosaicism in parents of children with severe …

KDM5A mutations identified in autism spectrum disorder using forward genetics

L El Hayek, IO Tuncay, N Nijem, J Russell, S Ludwig… - Elife, 2020 - elifesciences.org
Autism spectrum disorder (ASD) is a constellation of neurodevelopmental disorders with
high phenotypic and genetic heterogeneity, complicating the discovery of causative genes …

[HTML][HTML] Genetic testing before epilepsy surgery–An exploratory survey and case collection from German epilepsy centers

CM Boßelmann, V San Antonio-Arce… - Seizure, 2022 - Elsevier
Introduction Genetic testing in people with epilepsy may support presurgical decision-
making. It is currently unclear to what extent epilepsy centres use genetic testing in …

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

C Klöckner, H Sticht, P Zacher, B Popp… - Genetics in …, 2021 - nature.com
Purpose This study aims to provide a comprehensive description of the phenotypic and
genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25 …

Developmental epileptic encephalopathy in DLG4‐related synaptopathy

B Kassabian, AM Levy, E Gardella… - …, 2023 - Wiley Online Library
Objective The postsynaptic density protein of excitatory neurons PSD‐95 is encoded by
discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to …