Search Results - "Epilepsy Phenome/Genome Project"

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.

Authors: Pottinger, Tess D. Motelow, Joshua E. Povysil, Gundula et al.

Source: BMC Genomics. 6/29/2024, Vol. 25 Issue 1, p1-11. 11p.

Comprehensive Review of Worster-Drought Syndrome as a Congenital Suprabulbar Paresis.

Authors: Dzięgiel, Magdalena Maciejowska, Aleksandra Juszkiewicz, Dawid et al.

Source: Journal of Mind & Medical Sciences. Jun2026, Vol. 13 Issue 2, p8. 14p.

The First Iranian Patient with West Syndrome Due to a RYR3 Gene Variant: A Case Report and Literature Review.

Authors: Mohammad Hassani, Behzad Haj Ghasemi, Niloofar Malekzadeh, Kianoosh

Source: Archives of Iranian Medicine (AIM). Jan2026, Vol. 29 Issue 1, p53-57. 5p.

Association between maternal usage of volatile organic compounds and West syndrome, the Japan Environment and Children's study.

Authors: Shimomura, Hideki Taniguchi, Naoko Fujino, Tetsuro et al.

Source: Scientific Reports. 12/28/2024, Vol. 14 Issue 1, p1-8. 8p.

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis.

Authors: Zhang, Yuan Yao, Cancan Chen, Yan et al.

Source: Advanced Science. May2026, p1. 20p. 8 Illustrations.

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Authors: Rouzier, Cécile Pion, Emmanuelle Chaussenot, Annabelle et al.

Source: Annals of Clinical & Translational Neurology. Jun2024, Vol. 11 Issue 6, p1478-1491. 14p.

The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.

Authors: Fadda, Abeer Alsabbagh, Mohamed Vasudeva, Dhanya et al.

Source: International Journal of Molecular Sciences. Jun2025, Vol. 26 Issue 12, p5815. 13p.

Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.

Authors: Liu, Juan Hu, Jihong Duan, Yaqin et al.

Source: Neurological Sciences. Jun2025, Vol. 46 Issue 6, p2809-2817. 9p.

Subjects: Medical sciences, Medical genetics, Genetic variation, Mutant proteins, Life sciences

Clinical and Radiological Variability in Episodic Ataxia Type 2: A Case Report and Review of the Literature.

Authors: Ortiz JF Japon AG Lopez CD et al.

Source: Cerebellum (London, England) [Cerebellum] 2026 Jun 30; Vol. 25 (4). Date of Electronic Publication: 2026 Jun 30.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH.

Authors: Tisserant, Emilie Vitobello, Antonio Callegarin, Davide et al.

Source: Annals of Human Genetics. Jul2022, Vol. 86 Issue 4, p171-180. 10p.

Dosage effect of copy number variation in epilepsy and ten regions of the human brain.

Authors: De, Tisham Coin, Lachlan Johnson, Michael R.

Source: Scientific Reports. 12/4/2025, Vol. 15 Issue 1, p1-18. 18p.

Investigation of Unknown Neurogenetic Variants: An Integrated Computational Analysis Revealing Epilepsy-Associated Critical Variants in the GABRB3 Gene.

Authors: DELİOĞLU, Derya TÜRKMEN ARSLAN, Ayla

Source: Afyon Kocatepe University Journal of Science & Engineering / Afyon Kocatepe Üniversitesi Fen Ve Mühendislik Bilimleri Dergisi; Dec2025, Vol. 25 Issue 6, p1239-1260, 22p

Clinical trials for Lennox–Gastaut syndrome: Challenges and priorities.

Authors: Knowles, Juliet K. Warren, Aaron E. L. Mohamed, Ismail S. et al.

Source: Annals of Clinical & Translational Neurology. Nov2024, Vol. 11 Issue 11, p2818-2835. 18p.

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency.

Authors: Dugger, Sarah A. Dhindsa, Ryan S. Sampaio, Gabriela De Almeida et al.

Source: PLoS Genetics. 10/2/2023, Vol. 19 Issue 10, p1-30. 30p.

Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy.

Authors: Wolking, Stefan Moreau, Claudia McCormack, Mark et al.

Source: Annals of Clinical & Translational Neurology. Jul2021, Vol. 8 Issue 7, p1376-1387. 12p.

Clinical and functional characterization of the GABRB3 p.Met80Val variant in early-onset epilepsy with long-term follow-up.

Authors: Hua, Ran Jiang, Junhong Wang, Baotian et al.

Source: Italian Journal of Pediatrics. 6/20/2025, Vol. 51 Issue 1, p1-11. 11p.

Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research.

Authors: Habela, Christa W. Schatz, Krista Kelley, Sarah A.

Source: Epilepsy Currents. May/Jun2025, Vol. 25 Issue 3, p153-157. 5p.

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

Authors: Suzuki, Toshimitsu Suzuki, Toshifumi Raveau, Matthieu et al.

Source: Annals of Clinical & Translational Neurology. Jul2020, Vol. 7 Issue 7, p1117-1131. 15p.

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins.

Authors: Krenn, Martin Ernst, Margot Tomschik, Matthias et al.

Source: Annals of Clinical & Translational Neurology. Nov2019, Vol. 6 Issue 11, p2317-2322. 6p.

Drug‐resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.

Authors: Almoguera, Berta McGinnis, Emily Abrams, Debra et al.

Source: Acta Neurologica Scandinavica. Sep2019, Vol. 140 Issue 3, p169-176. 8p.

Subjects: Epilepsy, Ontogeny, Central nervous system, Drug resistance, Gene families, Pharmacogenomics