Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series

Ronzano, Nadia; Scala, Marcello; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Maria Stella; Pisano, Tiziana; Battaglia, Domenica; Genuardi, Maurizio; Elia, Maurizio; Striano, Pasquale; Pruna, Dario

doi:10.1016/j.seizure.2022.06.013

Cited by 10 publications

(4 citation statements)

References 18 publications

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“… 51 Interestingly, PTEN variants are associated with drug resistance in patients with focal epilepsy. 52 …”

Section: Mechanistic Pathways Of P75 Ntr In Epilepsymentioning

confidence: 99%

The functional and molecular roles of p75 neurotrophin receptor (p75^NTR) in epilepsy

Turkistani,

Al-kuraishy,

Al-Gareeb

et al. 2024

J Cent Nerv Syst Dis

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Epilepsy is a chronic neurological disorder manifested by recurring unprovoked seizures resulting from an imbalance in the inhibitory and excitatory neurotransmitters in the brain. The process of epileptogenesis involves a complex interplay between the reduction of inhibitory gamma-aminobutyric acid (GABA) and the enhancement of excitatory glutamate. Pro-BDNF/p75NTR expression is augmented in both glial cells and neurons following epileptic seizures and status epileptics (SE). Over-expression of p75NTR is linked with the pathogenesis of epilepsy, and augmentation of pro-BDNF/p75NTR is implicated in the pathogenesis of epilepsy. However, the precise mechanistic function of p75NTR in epilepsy has not been completely elucidated. Therefore, this review aimed to revise the mechanistic pathway of p75NTR in epilepsy.

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“… 51 Interestingly, PTEN variants are associated with drug resistance in patients with focal epilepsy. 52 …”

Section: Mechanistic Pathways Of P75 Ntr In Epilepsymentioning

confidence: 99%

The functional and molecular roles of p75 neurotrophin receptor (p75^NTR) in epilepsy

Turkistani,

Al-kuraishy,

Al-Gareeb

et al. 2024

J Cent Nerv Syst Dis

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“…[11][12][13] PHTS-ASD individuals also experience an increased risk of epilepsy, with an estimated prevalence of 15-20% of patients with PHTS, consistent with higher rates of epilepsy among all individuals with ASD (estimated at 7-10% in a meta-analysis of 48 cross-sectional and cohort studies). 14,15 Epilepsy in individuals with PHTS may be either generalized or focal, and case reports, but not case series, exist of patient with focal epileptogenic lesions who have been considered for epilepsy surgery. 14,16 The predominant literature on PHTS is focused on cancer, and only recently have reports begun to focus on the neurobehavioral characteristics of these patients.…”

Section: Introductionmentioning

confidence: 99%

“…14,15 Epilepsy in individuals with PHTS may be either generalized or focal, and case reports, but not case series, exist of patient with focal epileptogenic lesions who have been considered for epilepsy surgery. 14,16 The predominant literature on PHTS is focused on cancer, and only recently have reports begun to focus on the neurobehavioral characteristics of these patients. There has been no large-scale, longitudinal characterization of head circumference, seizures, allied health usage, and imaging findings in patients with PHTS, and in this study, we report on these features using a large natural history study (clinicaltrials.gov: NCT02461446).…”

Section: Introductionmentioning

confidence: 99%

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Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Dhawan,

Baitamouni,

Liu

et al. 2024

Ann Clin Transl Neurol

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ObjectivePTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurological and neuropsychiatric challenges during childhood, including autism spectrum disorder (ASD). However, the frequency and nature of seizures and the utilization of allied health services have not been described.MethodsYoung patients with PHTS and sibling controls were recruited across five centers in the United States and followed every 6–12 months for a mean of 2.1 years. In addition to the history obtained from caregivers, neurodevelopmental evaluations and structured dysmorphology examinations were conducted, and brain MRI findings, received therapies, and epilepsy characteristics were reported.ResultsOne hundred and seven patients with PHTS (median age 8.7 years; range 3–21 years) and 38 controls were enrolled. ASD and epilepsy were frequent among patients with PHTS (51% and 15%, respectively), with generalized epilepsy strongly associated with ASD. Patients with epilepsy often required two antiseizure medications. Neuroimaging revealed prominent perivascular spaces and decreased peritrigonal myelination in individuals with PHTS‐ASD. Allied therapy use was frequent and involved physical, occupational, speech, and social skills therapies, with 89% of all patients with PHTS, regardless of ASD diagnosis, utilizing at least one service.InterpretationThis prospective, longitudinal study highlights the wide neurological spectrum seen in young individuals with PHTS. ASD is common in PHTS, comorbid with epilepsy, and allied health services are used universally. Our findings inform care discussions with families about neurological outcomes in PHTS.

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Emerging Trends in Big Data Analysis in Computational Biology and Bioinformatics in Health Informatics: A Case Study on Epilepsy and Seizures

Chouhan,

Sahu,

Bhatt

et al. 2023

Methods in Molecular Biology

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Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series

Cited by 10 publications

References 18 publications

The functional and molecular roles of p75 neurotrophin receptor (p75^NTR) in epilepsy

The functional and molecular roles of p75 neurotrophin receptor (p75^NTR) in epilepsy

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Emerging Trends in Big Data Analysis in Computational Biology and Bioinformatics in Health Informatics: A Case Study on Epilepsy and Seizures

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Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series

Cited by 10 publications

References 18 publications

The functional and molecular roles of p75 neurotrophin receptor (p75NTR) in epilepsy

The functional and molecular roles of p75 neurotrophin receptor (p75NTR) in epilepsy

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Emerging Trends in Big Data Analysis in Computational Biology and Bioinformatics in Health Informatics: A Case Study on Epilepsy and Seizures

Contact Info

Product

Resources

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The functional and molecular roles of p75 neurotrophin receptor (p75^NTR) in epilepsy

The functional and molecular roles of p75 neurotrophin receptor (p75^NTR) in epilepsy