Results 241 to 250 of about 211,660 (314)

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer   +4 more
wiley   +1 more source

RAS/BRAF wild-type metastatic high-methylated colorectal cancer has gene expression patterns related to MSI-H and BRAF V600E mutant: a translational research. [PDF]

open access: yesSci Rep
Wakayama S   +23 more
europepmc   +1 more source

The small molecule simufilam dose‐dependently attenuates the worsening of seizures in a mouse model of tuberous sclerosis complex

open access: yesEpilepsia, EarlyView.
Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley   +11 more
wiley   +1 more source

Lipid‐based Nano‐delivery systems as a promising strategy for the treatment of epilepsy: Current status and challenges

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Epilepsy is a prevalent chronic neurological disorder characterized by abnormal neuronal electrical activity. The primary treatment modality for individuals with epilepsy (PWE) is antiseizure medication (ASM). The multiple potential factors contributing to treatment resistance in epilepsy may be attributed to the inability of ASMs to
Priya Kannan Varshini   +9 more
wiley   +1 more source

Insights From Mutational and Transcriptomic Profiles in Epithelial-myoepithelial Carcinoma. [PDF]

open access: yesAm J Surg Pathol
Alsugair Z   +10 more
europepmc   +1 more source

Hypoxic CAF studies unveil PTHrP‑vitamin D‑RAS axis as pivotal in the CAF. [PDF]

open access: yesOncol Rep
Nakajo S   +16 more
europepmc   +1 more source

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