Results 171 to 180 of about 122,559 (261)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing. [PDF]

Br J Ophthalmol
Wang L, Cao J, Yang D, Yu Y, Wang Z, Xing S, Wang M, Yu X, Zhou X, Zhao J.   +9 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease. [PDF]

J Clin Neurol
Hong EP, Ha EJ, Youn DH, Chung Y, Kim KM, Lee SH, Cho WS, Kang HS, Jeon JP, Kim JE, First Korean Stroke Genetics Association Research (The FirstKSGAR) Study.   +10 more
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Correction: Whole-exome sequencing analysis of human semen quality in Russian multiethnic population. [PDF]

Front Genet
Kolmykov S, Vasiliev G, Osadchuk L, Kleschev M, Osadchuk A.   +4 more
europepmc   +1 more source

Prenatal exome sequencing

, 2022
Sproule, Cathryn, Mone, Fionnuala; id_orcid 0000-0002-0718-7547   +1 more
openaire   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis. [PDF]

Prenat Diagn
Botvinik A, Glasner VO, Reches A, Miremberg H, Haratz KK, Brill T, Malki L, Rozenzwaig M, Yaron Y, Levy M.   +9 more
europepmc   +1 more source