Results 111 to 120 of about 88,675 (203)

SCN1A pathogenic variants do not have a distinctive blood‐derived DNA methylation signature

Epilepsia, Volume 66, Issue 4, Page e66-e72, April 2025.
Abstract DNA methylation signatures (“episignatures”) can be used as biomarkers of genetic aberrations, clinical phenotypes, and environmental exposures in rare diseases. Episignatures are utilized in molecular diagnostics and can clarify variants of uncertain significance. A growing number of disease genes, including epilepsy genes, exhibit robust and
Christy W. LaFlamme, Karim Karimi, Cassandra Rastin, Edith P. Almanza Fuerte, Talia Allan, Sophie J. Russ‐Hall, Amy L. Schneider, Daniel Stobo, Gaetan Lesca, Joseph D. Symonds, Andreas Brunklaus, Lynette G. Sadleir, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford   +14 more
wiley   +1 more source

B chromosome and its non-Mendelian inheritance in Atractylodes lancea. [PDF]

PLoS One
Hara K, Kikuchi S, Inoue M, Tsusaka T, Sakurai M, Tanabe H, Shirasawa K, Isobe S.   +7 more
europepmc   +1 more source

Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies

Epilepsia, EarlyView.
Abstract Objective Although previous research shows that generalized and focal epilepsies have at least some distinct genetic influences, it remains uncertain why some families manifest both types of epilepsy. We tested two hypotheses: (1) families with both generalized and focal epilepsy carry separate risk alleles for both types; and (2) within mixed
Colin A. Ellis, Ruth Ottman, Michael P. Epstein, Epi4K Consortium, Samuel F. Berkovic, Karen L. Oliver   +5 more
wiley   +1 more source

[SNG2], a prion form of Cut4/Apc1, confers non-Mendelian inheritance of heterochromatin silencing defect in fission yeast. [PDF]

Nucleic Acids Res
Sharma S, Srivastava S, Dubey RN, Mishra P, Singh J.   +4 more
europepmc   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals. [PDF]

Mamm Genome
Tammen I, Mather M, Leeb T, Nicholas FW.
europepmc   +1 more source

Complex nutrient channel phenotypes despite Mendelian inheritance in a Plasmodium falciparum genetic cross. [PDF]

PLoS Pathog, 2020
Gupta A, Bokhari AAB, Pillai AD, Crater AK, Gezelle J, Saggu G, Nasamu AS, Ganesan SM, Niles JC, Desai SA.   +9 more
europepmc   +1 more source

Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract De novo variants in KCNQ2 cause neonatal onset developmental and epileptic encephalopathy (KCNQ2‐DEE; Online Mendelian Inheritance in Man #613720), most often by loss‐of‐function in vitro effects. In this study, we describe a neonatal onset DEE proband carrying a recurrent de novo KCNQ2 variant (c.794C>T; p.A265V) affecting the pore domain of ...
Ingride Luzio Gaspar, Gaetano Terrone, Giusy Carleo, Lidia Carotenuto, Francesco Miceli, Gabriella De Vita, Maurizio Taglialatela   +6 more
wiley   +1 more source

The contribution of an X chromosome QTL to non-Mendelian inheritance and unequal chromosomal segregation in Auanema freiburgense. [PDF]

Genetics
Al-Yazeedi T, Adams S, Tandonnet S, Turner A, Kim J, Lee J, Pires-daSilva A.   +6 more
europepmc   +1 more source

Genetics in the United States and Great Britain 1890-1930 : queries and speculations [PDF]

, 1978
Kevles, Daniel J.
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