Search Results - "Epi4K Consortium"

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.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Authors: Gillentine, Madelyn A. Wang, Tianyun Hoekzema, Kendra et al.

Source: Genome Medicine. 5/31/2021, Vol. 13 Issue 1, p1-26. 26p.

Polygenic scores as modifiers in Mendelian diseases.

Authors: Schmidt, Axel Ludwig, Kerstin U. Heyne, Henrike O.

Source: Medizinische Genetik. Jul2026, Vol. 38 Issue 3, p231-239. 9p.

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.

Effect of Acetazolamide in a Child with CACNA1A Channelopathy, Refractory Seizures, and ADHD.

Authors: Santhosh, Thanisha Ramamurthy, Prakriti Nagabushana, Divya

Source: Annals of Child Neurology. Jul2025, Vol. 33 Issue 3, p126-129. 4p.

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

Phenotypic variability in cases with CACNA1A mutation.

Authors: Bozkaya-Yilmaz, Sema Olgac-Dundar, Nihal Aliyeva, Nargiz et al.

Source: European Journal of Pediatrics. Apr2025, Vol. 184 Issue 4, p1-15. 15p.

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.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

Authors: Pode-Shakked, Ben Barel, Ortal Singer, Amihood et al.

Source: Scientific Reports. 9/27/2021, Vol. 11 Issue 1, p1-8. 8p.

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.

Knockdown-Replace: A New Dynamic for Treatment of Dynamin-1 Related developmental and epileptic encephalopathy (DEE).

Authors: Wagnon, Jacy L.¹ (AUTHOR)

Source: Epilepsy Currents. Dec2025, Vol. 25 Issue 6, p427-429. 3p.

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.