Modeling epileptic spasms during infancy: Are we heading for the treatment yet?

L Velíšek, J Velíšková - Pharmacology & therapeutics, 2020 - Elsevier
Infantile spasms (IS or epileptic spasms during infancy) were first described by Dr. William
James West (aka West syndrome) in his own son in 1841. While rare by definition (occurring …

Treatment of infantile spasms: why do we know so little?

N Specchio, N Pietrafusa, A Ferretti… - Expert review of …, 2020 - Taylor & Francis
Introduction Infantile spasm (IS) is an epileptic syndrome with typical onset within the first 2
years of life. This condition might be caused by several etiologies. IS is associated with …

Risk factors for, and genetic association with, intestinal atresia in dairy calves

OM Keane, TR Carthy, JP Hanrahan… - Animal …, 2023 - Wiley Online Library
Intestinal atresia is an under‐diagnosed congenital defect in cattle. It results in complete
occlusion of the intestinal lumen and, unless surgically corrected, results in death or …

RhoG-binding domain of Elmo1 ameliorates excessive process elongation induced by autism spectrum disorder-associated Sema5A

M Okabe, Y Miyamoto, Y Ikoma, M Takahashi, R Shirai… - Pathophysiology, 2023 - mdpi.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that includes autism,
Asperger's syndrome, and pervasive developmental disorder. ASD is characterized by poor …

Autism Spectrum Disorder-and/or Intellectual Disability-Associated Semaphorin-5A Exploits the Mechanism by Which Dock5 Signalosome Molecules Control Cell …

M Okabe, T Sato, M Takahashi, A Honjo… - Current Issues in …, 2024 - mdpi.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that includes autism,
Asperger's syndrome, and pervasive developmental disorder. Individuals with ASD may …

A regional burden of sequence-level variation in the 22q11. 2 region influences schizophrenia risk and educational attainment

EJ Breetvelt, KC Smit, J van Setten, D Merico… - Biological …, 2022 - Elsevier
Background Genomic loci where recurrent pathogenic copy number variants are associated
with psychiatric phenotypes in the population may also be sensitive to the collective impact …

Infantile Spasms: Pharmacotherapy Challenges

J Velíšková, L Velíšek - NeuroPsychopharmacotherapy, 2022 - Springer
Infantile spasms (IS, epileptic spasms during infancy) represent a unique entity among
epilepsy syndromes. Both its clinical picture (brief spastic seizures) and electrographic …

Integration of epigenomic and transcriptome analyses of neural tube defects reveals methylation driver lncRNAs and mRNAs

J Xu, Y Li, L Zhang, Q Liu, S Hu, Y Hu, J Li, M Chen… - 2022 - researchsquare.com
Background Abnormal genome-wide methylation during embryogenesis is associated with
neural tube defects (NTDs) at birth. Long noncoding RNAs (lncRNAs) may be promising …

[HTML][HTML] Infantile epileptic spasms syndrome

P Patel - medlink.com
Infantile epileptic spasms syndrome (IESS) is a severe epileptic encephalopathy occurring
in infancy. It encompasses both West syndrome as well as infants presenting with epileptic …

Genetic Studies on Familial Genetic Generalized Epilepsy: A Whole Exome Sequencing Approach

CC Kin - 2021 - search.proquest.com
Genetic generalized epilepsy (GGE) is a form of epilepsy that is potentially caused by
genetic factors. It accounts for 15-20% of all epilepsy worldwide and 18.7% of the epilepsy …