Results 261 to 270 of about 352,372 (280)

Determinants of epilepsy among outpatients in public health institutions of Dawo district, South West Shoa Zone, Oromia, Ethiopia, 2023: an institutional-based unmatched case-control study. [PDF]

Front Neurol
Alemu T, Cheru A, Daba L, Tiki T, Ifa M.
europepmc   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies. [PDF]

Epilepsy Curr
Garris J, Abbott M, Axeen E, Tochen L, Schreiber JM.   +4 more
europepmc   +1 more source

The Tubo‐ovarian abscess study (TOAST): A single‐center retrospective review of predictors of failed medical management

International Journal of Gynecology &Obstetrics, Volume 170, Issue 2, Page 927-935, August 2025.
Abstract Objective Tubo‐ovarian abscesses (TOAs) cause significant morbidity. Surgical intervention is required if broad‐spectrum intravenous antibiotics are unsuccessful. This study aimed to describe admission characteristics that predict failed medical management and to evaluate a previously developed risk score for predicting the need for surgical ...
Anna Marshall, Jordon Wimsett, Charlotte Handforth, Louise Unsworth, Jessica Wilson, Anna‐Marie Van Der Merwe, Charlotte Oyston   +6 more
wiley   +1 more source

The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series. [PDF]

BMC Pediatr
Absawi MK, Shama A, Fahoum K, Slutzky-Goldberg I, Kablan F, Redenski I, Srouji S.   +6 more
europepmc   +1 more source

Diagnosing late-onset PKU in the shadow of refractory seizures. [PDF]

Radiol Case Rep
Awashra A, Neiroukh H, Milhem A, Hamdan D, Sarama A, Dweikat T, Hmeedan A, Khader S.   +7 more
europepmc   +1 more source

Potential Role of Perampanel in Reducing Barbiturate Dependency in Febrile Infection-Related Epilepsy Syndrome: A Case Report. [PDF]

Cureus
Ochiai K, Omata T, Sano K, Sakuma H, Takanashi JI.   +4 more
europepmc   +1 more source

<i>Arisaema cum</i> Bile Mitigate Febrile Seizure in Rats via Inhibition of Neuroinflammation, Regulation of FXR and GABA Signaling Pathway. [PDF]

J Inflamm Res
Wu X, Zhong L, Wang J, Zhang Q, Sun J, Wang C, Zhang M, Zhao C.   +7 more
europepmc   +1 more source

Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing. [PDF]

Ann Clin Transl Neurol
Knox AT, Thompson CH, Scott D, Abramova TV, Stieve B, Freeman A, George AL.   +6 more
europepmc   +1 more source