European Journal of Paediatric Neurology, Год журнала: 2023, Номер 47, С. A1 - A1
Опубликована: Ноя. 1, 2023
Язык: Английский
Cell Death and Disease, Год журнала: 2024, Номер 15(4)
Опубликована: Апрель 16, 2024
Abstract Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) represents the initial tumor suppressor gene identified to possess phosphatase activity, governing various cellular processes including cell cycle regulation, migration, metabolic pathways, autophagy, oxidative stress response, senescence. Current evidence suggests that PTEN is critical for stem maintenance, self-renewal, lineage commitment, differentiation. Based latest available evidence, we provide a comprehensive overview of mechanisms by which regulates activities different populations influences neurological disorders, encompassing autism, stroke, spinal cord injury, traumatic brain Alzheimer’s disease Parkinson’s disease. This review aims elucidate therapeutic impacts in relation neurogenesis or niche across range offering foundation innovative approaches aimed at tissue repair regeneration disorders.
Язык: Английский
Процитировано
14
Epiliepsy currents/Epilepsy currents, Год журнала: 2024, Номер unknown
Опубликована: Март 25, 2024
While the diagnosis of epilepsy relies on presence seizures, it encompasses a group phenotypically and etiologically diverse disorders in which seizures may only be one constellation symptoms. There are genetic, structural, metabolic causes, but most syndromes have some genetic predisposition. The importance genetics management has been increasingly recognized over past 2 decades. With increased access to testing tools new recommendations that all patients with unexplained get testing, is becoming part routine clinical care. Increased resulted an explosion number genes changes identified changing our understanding mechanisms epileptogenesis. Advances both scientific discovery expanding potential impact patient care as well creating dilemmas. This brief review will highlight where we regarding ability obtain diagnosis, how diagnoses care, next likely frontiers management.
Язык: Английский
Процитировано
5
Seizure, Год журнала: 2025, Номер unknown
Опубликована: Март 1, 2025
Язык: Английский
Процитировано
0
medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2025, Номер unknown
Опубликована: Апрель 28, 2025
ABSTRACT Objective To analyze postsurgical outcomes in relation to epilepsy characteristics and genetic etiology pediatric patients with isolated low-grade associated tumors (LEAT) LEAT plus focal cortical dysplasia type IIIb (FCD IIIb) who underwent surgery. Methods Patients younger than 19 years at the time of surgery, or FCD a minimum follow-up 2 were included. Clinical data, neuroimaging, EEG, neuropsychological findings, surgical variables, histopathological molecular-genetic findings evaluated. Surgical assessed four domains: seizures, antiseizure medication (ASM) use, cognitive performance changes complications, including predictor analysis. Results Seventy-three children fulfilled inclusion criteria, 53 (72.6%) having drug-resistant epilepsy. more frequent (44/73, 60.3% vs. 29/73, 39.7%) gangliogliomas most common tumor (43/73, 58.9%), followed by dysembryoplastic neuroepithelial (19/73, 26.0 %). Genetic testing was frequently positive (20/28) (18/43, p = 0.02). At end (median 5.7 years), 66 (90.4%) seizure-free, 57 (78.1%) had discontinued ASM. Younger age seizure onset, longer duration, higher number ASM correlated lower pre- postoperative IQ. An IQ gain > 10 pts. postoperatively present 8 (15.1%). Two (2.7%) an unexpected permanent deficit, while (13.7%) minor temporary deficit. No additional predictive outcome factors identified. Significance Epilepsy surgery yields high chances freedom from seizures discontinuation. Early intervention terms shorter duration fewer used can be Molecular-genetic differences between suggest distinct neoplastic dysplastic entities, respectively. Key points A majority achieved post-surgically. Children before cause detected often + implying their respectively origin.
Язык: Английский
Процитировано
0
Journal of International Medical Research, Год журнала: 2025, Номер 53(5)
Опубликована: Май 1, 2025
Objectives Genetic testing is not routinely performed during presurgical evaluation of adult patients with epilepsy. Methods In this retrospective observational study, we analyzed the diagnostic yield an epilepsy multigene panel and patient characteristics in surgery candidates from 2014 to 2024. We compared data collected GTPase-activating protein activity toward Rags 1 (GATOR1) non-GATOR1 pathway mutations. Results total, 31 236 (13%) tested positive for monogenic disorders. The was 12% (28 233 patients). Overall, 9 had GATOR1 Moreover, 15 underwent invasive electroencephalography evaluations, 6 exhibiting mutations group, three six (50%) focal ictal onset. two nine (22%) 8 resection or laser ablation, 4 four (44.4%) all favorable outcomes (Engel I–II). 22 (18.2%) resection. One a outcome I). Conclusions may be helpful selection counseling regarding expected outcome. These findings valuable large multicenter studies goal streamline surgical journey germline
Язык: Английский
Процитировано
0
Expert Review of Neurotherapeutics, Год журнала: 2024, Номер 24(7), С. 661 - 680
Опубликована: Май 30, 2024
Introduction Infantile epileptic spasms syndrome (IESS) is a common developmental and encephalopathy with poor long-term outcomes. A substantial proportion of patients IESS have potentially surgically remediable etiology. Despite this, epilepsy surgery underutilized in this patient group. Some etiologies, such as focal cortical dysplasia malformation development oligodendroglial hyperplasia (MOGHE), are under-diagnosed infants young children. Even when etiology recognised, for example, tuberous sclerosis or encephalomalacia, may be delayed not considered due to diffuse EEG changes, unclear surgical boundaries, concerns about operating age
Язык: Английский
Процитировано
3
International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(21), С. 11551 - 11551
Опубликована: Окт. 27, 2024
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication, restricted interests, and repetitive behaviors. Despite considerable research efforts, the genetic complexity of ASD remains poorly understood, complicating diagnosis treatment, especially Arab population, with its diversity linked to migration, tribal structures, high consanguinity. To address scarcity data Middle East, we conducted genome sequencing (GS) on 50 subjects their unaffected parents. Our analysis revealed 37 single-nucleotide variants from 36 candidate genes over 200 CGG repeats FMR1 gene one subject. The identified were classified as uncertain, likely pathogenic, or pathogenic based in-silico algorithms ACMG criteria. Notably, 52% homozygous, indicating recessive architecture this population. This finding underscores significant impact consanguinity within Qatari which could be utilized counseling/screening program Qatar. We also discovered single nucleotide 13 novel not previously associated ASD: ARSF, BAHD1, CHST7, CUL2, FRMPD3, KCNC4, LFNG, RGS4, RNF133, SCRN2, SLC12A8, USP24, ZNF746. investigation categorized into seven groups, highlighting roles cognitive development, including ubiquitin pathway, transcription factors, solute carriers, kinases, glutamate receptors, chromatin remodelers, ion channels.
Язык: Английский
Процитировано
2
Epilepsia Open, Год журнала: 2023, Номер 9(1), С. 424 - 431
Опубликована: Ноя. 9, 2023
Abstract Focal cortical dysplasia (FCD) represents the most common cause of drug‐resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes FCD remain unknown. We present a patient with an exceptionally rapid development evolving super‐refractory status epilepticus. performed multiple clinical (serial EEG, MRI), biochemical (metabolic immunological screening), (WES from blood‐ brain‐derived DNA), histopathological investigations. The presented 1 month after uncomplicated varicella infection. MRI was negative, as well other examinations. Whole‐exome sequencing blood‐derived DNA detected heterozygous paternally inherited variant NM_006267.4(RANBP2):c.5233A>G p.(Ile1745Val) (Chr2[GRCh37]:g.109382228A>G), gene associated susceptibility infection‐induced acute necrotizing encephalopathy. No combination anti‐seizure medication led sustained seizure freedom warranted induction propofol anesthesia high‐dose intravenous midazolam continuous respiratory support that however failed abort activity. Brain biopsy revealed type IIa; this finding indication emergency right‐sided hemispherotomy rendered temporarily seizure‐free. Postsurgically, he remains on antiseizure experiences rare nondisabling seizures. This report highlights uniquely course putatively modified by RANBP2 variant. Plain Language Summary case summary who came our attention for could not be controlled medication. His progressed rapidly life‐threatening epilepticus unusual neurological findings. Therefore, we decided surgically remove piece brain tissue order clarify diagnosis showed features structural abnormality epilepsy, focal dysplasia. Later, another condition, found, hypothesize have contributed patient.
Язык: Английский
Процитировано
2
Epiliepsy currents/Epilepsy currents, Год журнала: 2024, Номер 24(4), С. 248 - 250
Опубликована: Апрель 30, 2024
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Язык: Английский
Процитировано
0
Seizure, Год журнала: 2024, Номер 120, С. 124 - 134
Опубликована: Июнь 29, 2024
Язык: Английский
Процитировано
0