Results 61 to 70 of about 53,278 (329)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Genetic (idiopathic) generalized epilepsy with occipital semiology

Epileptic Disorders, 2018
ABSTRACTIdiopathic photosensitive occipital lobe epilepsy (IPOE) is a syndrome that should be suspected in patients with seizures with occipital semiology, photosensitivity, and normal MRI. It should be distinguished from occipital epilepsy of unknown aetiology (cryptogenic) given the differences in management.
Pablo, Gómez-Porro, Angel, Aledo-Serrano, Rafael, Toledano, Irene, García-Morales, Antonio, Gil-Nagel   +4 more
openaire   +3 more sources

Pharmacoresponse in Genetic Generalized Epilepsy: A Genome-Wide Association Study [PDF]

Pharmacogenomics, 2020
Aim: Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers in response to specific antiepileptic drugs (AEDs) in genetic generalized epilepsies (GGE). Materials & methods: We conducted a genome-wide association study (GWAS) of 3.3 million autosomal SNPs in 893 European subjects with GGE - responsive or ...
Wolking S., Schulz H., Nies A. T., Mccormack M., Schaeffeler E., Auce P., Avbersek A., Becker F., Klein K. M., Krenn M., Moller R. S., Nikanorova M., Weckhuysen S., Consortium E., Cavalleri G. L., Delanty N., Depondt C., Johnson M. R., Koeleman B. P. C., Kunz W. S., Marson A. G., Sander J. W., Sills G. J., Striano P., Zara F., Zimprich F., Weber Y. G., Krause R., Sisodiya S., Schwab M., Sander T., Lerche H.   +31 more
openaire   +9 more sources

Systematically disrupted functional gradient of the cortical connectome in generalized epilepsy: Initial discovery and independent sample replication

NeuroImage, 2021
Genetic generalized epilepsy is a network disorder typically involving distributed areas identified by classical neuroanatomy. However, the finer topological relationships in terms of continuous spatial arrangement between these systems are still ...
Yao Meng, Siqi Yang, Huafu Chen, Jiao Li, Qiang Xu, Qirui Zhang, Guangming Lu, Zhiqiang Zhang, Wei Liao   +8 more
doaj   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Generalized Epilepsy and Febrile Seizures Syndrome

Pediatric Neurology Briefs, 1999
A childhood-onset, genetic epilepsy syndrome, recently described in a single Australian family and characterized as “generalized epilepsy with febrile seizures plus” (GEFS+), is reported in an additional 63 patients from 9 families evaluated at the ...
J Gordon Millichap
doaj   +1 more source

Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]

, 2000
Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

Nature Communications
A diagnosis of epilepsy has significant consequences for an individual but is often challenging in clinical practice. Novel biomarkers are thus greatly needed.
Henrike O. Heyne, Fanny-Dhelia Pajuste, Julian Wanner, Jennifer I. Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie, FinnGen, Estonian Biobank research team, Reetta Kälviainen, Mark J. Daly   +9 more
doaj   +1 more source