American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales +13 more
wiley +1 more source
A narrative review of antiseizure medication adherence in epilepsy: determinants to clinical implications. [PDF]
EncephalitisKim Y, Jang Y.
europepmc +1 more source
Architectural (Type IA) Focal Cortical Dysplasia and Parvalbumin Immunostaining in Temporal Lobe Epilepsy [PDF]
, 2006 Rita Garbelli +7 more
openalex +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
Persons with epilepsy have an elevated radiosensitivity, which may be mitigated by folic acid. [PDF]
J NeurolKleber M +8 more
europepmc +1 more source
Genetic Association Between Polymyositis/Dermatomyositis and Epilepsy: Insights From Mendelian Randomization and Bioinformatic Analyses. [PDF]
Brain BehavLiu Y +10 more
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra +5 more
wiley +1 more source
Etiologies of patients with adult-onset epilepsy over the past 25 years: a retrospective study in China. [PDF]
BMC NeurolZhang X +7 more
europepmc +1 more source
A Case of Subcortical Band Heterotopia Presented with Epilepsy and Speech Regression
, 2018 Reaz Mahmud +2 more
openalex +2 more sources
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source