[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 …
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+ …
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
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 …
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 …
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 …
channel expressed in human heart and brain. Heterozygous variants in CACNA1C have …
Parental mosaicism in epilepsies due to alleged de novo variants
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 …
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 …
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 …
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
Purpose This study aims to provide a comprehensive description of the phenotypic and
genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25 …
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 …
discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to …