Results 51 to 60 of about 24,840 (206)

Insulin‐like growth factor 1 receptor correlates with verbal memory in ILAE type 2 hippocampal sclerosis

Epilepsia, EarlyView.
Abstract Objective Long‐term memory deficits are often seen in patients with temporal lobe epilepsy (TLE). Recently, studies showed that patients with hippocampal sclerosis (HS) type 2, which presents with severe neuron loss in CA1 only, performed within the normal range. However, up to 30% of HS type 2 cases have memory deficits.
Henrique Cruz, Amauri Batista de Oliveira‐Júnior, André Fernando Garcia Cortez, Ricardo Lutzky Saute, Ricardo Silva Centeno, Joao Norberto Stávale, Mirian Salvadori Bittar Guaranha, Elza Marcia Targas Yacubian, Esper Abrão Cavalheiro, Joao Pereira Leite, Jose Eduardo Peixoto‐Santos   +10 more
wiley   +1 more source

Challenges in the management of a case of tuberous sclerosis

Industrial Psychiatry Journal, 2012
Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina.
Anubhav Rathi, Manjeet Singh Bhatia, Anurag Jhanjee   +2 more
doaj   +1 more source

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

Epilepsia, EarlyView.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing, Lirong Han, Dongjun Guo, Thomas J. Foutz, Michael Wong   +4 more
wiley   +1 more source

Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: a case report

Journal of Medical Case Reports, 2012
Introduction The majority of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex is diagnosed with the classical clinical triad of seizures, mental retardation, and skin lesions.
Ishii Makoto, Asano Koichiro, Kamiishi Nobufumi, Hayashi Yuichiro, Arai Daisuke, Haraguchi Mizuha, Sugiura Hiroaki, Naoki Katsuhiko, Tasaka Sadatomo, Soejima Kenzo, Sayama Koichi, Betsuyaku Tomoko   +11 more
doaj   +1 more source

Decoding epilepsy's molecular blueprint: Machine learning unravels transcriptomic subtypes and regulatory networks

Epilepsia, EarlyView.
Abstract Objective Drug‐resistant epilepsy (DRE) affects approximately one‐third of patients with epilepsy. The molecular heterogeneity underlying DRE remains poorly defined, largely due to limited access to resected brain tissue and substantial genetic diversity.
Yanping Weng, Yu Ma, Wanwan Hou, Haibo Li, Yuanfeng Zhou, Rui Zhao, Hao Li, Lian Chen, Yangyang Ma, Li Jin, Yi Wang, Yu An   +11 more
wiley   +1 more source

Interictal and seizure‐onset scalp electroencephalographic patterns in malformations of cortical development

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development (MCDs) are a frequent cause of drug‐resistant epilepsy and a common indication for resective epilepsy surgery. As magnetic resonance imaging (MRI) lacks sensitivity for subtle MCDs, supplemental diagnostic tools are needed.
Lubna Shakhatreh, Liz Edenberg P. Quiles, Zhibin Chen, Ofer M. Genon, Saba Mohidat, Lyn Millist, Callum Hollis, Andrea Sundram, Piero Perucca, Terence J. O'Brien, Patrick Kwan   +10 more
wiley   +1 more source

Tuberous Sclerosis Complex : A Case Report

Saintika Medika, 2019
Tuberous Sclerosis Complex (TSC) is an autosomal dominant inherited neurocutaneous disorder. Tuberous Sclerosis Complex is caused by mutations in tumor suppressor gene (TSC), both TSC1 and TSC2.
Aunur Rofiq, Lita Setyowati, Aninda Fitri Nugrahani   +2 more
doaj   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

BMC Medical Genetics, 2018
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao   +7 more
doaj   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source