Results 191 to 200 of about 443,266 (297)

Bipolar Disorder and Epilepsy: Clinical and Neurobiological Overlaps, Evidence Gaps, and an Exploratory Systems Perspective. [PDF]

Actas Esp Psiquiatr
Gómez-Juanes R, Garcia-Toro M, Salvà J.   +2 more
europepmc   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Psychiatric comorbidities in pediatric epilepsy: a single-center retrospective study highlighting the burden of depressive symptoms. [PDF]

Front Neurol
De Leonardis A, Spalice A, Verrotti A, De Rosa I, Aloisio S.   +4 more
europepmc   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Vagal Nerve Stimulation and Critical Care Management Challenges for Status Epilepticus in a Pregnant Patient With Focal Cortical Dysplasia: Case Report

Case Reports in Critical Care
Evelin Zulema Camacho-Castillo, Daniel San-Juan, Jocelyn Cruz-Pérez, Jorge Alejandro Zepeda-Pérez, Miguel Benjamin Cervera-Sánchez, Yazmin Palomares-Salazar, Guillermo Axayacalt Gutiérrez-Aceves   +6 more
doaj   +1 more source

Serum insulin-like growth factor-1 and its association with epilepsy risk and cognitive function. [PDF]

Acta Epileptol
Guo J, Qiu Z, Chen B, Li H, Su P, Yuan Z, Wu D, Fang J.   +7 more
europepmc   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Biological Context–Informed and Population-Stratified Strategies Improve Genetic Diagnosis of CCDC22-Related Disorder

Genetics Research
Pei-Qi Zhang, Peng-Yu Wang, Si-Qi Zhang, Yan Ding, Wen-Hui Liu, Yao Wang, Kai Peng, Hua Li, Sheng Luo, Heng Meng, Jing Guo   +10 more
doaj   +1 more source

Biofluid Biomarkers of Neuronal and Glial Injury in Epilepsy and Seizures: A Comprehensive Review. [PDF]

Int J Mol Sci
Moroșanu V, Maier S, Roman-Filip I, Moroșanu S, Bălașa R.   +4 more
europepmc   +1 more source