Results 51 to 60 of about 175,504,466 (285)

Epilepsy surgery for pediatric patients with mild malformation of cortical development

, 2020
Purpose: The observation of mild malformation of cortical development (mMCD) has yet to have a major clinical impact due to the lack of clinical and research data.
김세훈, 이준수, 김흥동, 강훈철   +3 more
core   +1 more source

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

Auditory processing disorder in patients with language-learning impairment and correlation with malformation of cortical development

, 2011
Malformations of cortical development have been described in children and families with language-learning impairment. The objective of this study was to assess the auditory processing information in children with language-learning impairment in the ...
Cendes, Fernando, de Vasconcellos Hage, Simone R., Garcia, Vera Lucia, Guimaraes, Catarina Abraao, Marilisa Mantovani Guerreiro, Boscariol, Mirela, Schmutzler, Katia M. R., Catarina Abraão Guimarães, Fernando Cendes, Simone R de Vasconcellos Hage, Garcia, Vera Lucia [UNESP], Vera Lucia Garcia, Mirela Boscariol, Guerreiro, Marilisa Mantovani, Kátia M R Schmutzler   +14 more
core   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

Frontiers in Genetics, 2020
NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and
Katrien Stouffs, Katrien Stouffs, Patrick Verloo, Stefanie Brock, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Anna C. Jansen, Marije E.C. Meuwissen, Marije E.C. Meuwissen   +11 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Malformations of cortical development: Embryology and epilepsy

Epilepsia
Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis.
M. Christianne Hoeberigs, Simon Tousseyn
openaire   +2 more sources

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Tubulin genes and malformations of cortical development [PDF]

European Journal of Medical Genetics, 2018
A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation.
Romaniello, R., Arrigoni, F., Fry, A. E., Bassi, M. T., Rees, M. I., Borgatti, R., Pilz, D. T., Cushion, T. D.   +7 more
openaire   +4 more sources

Quantitative MRI susceptibility mapping reveals cortical signatures of changes in iron, calcium and zinc in malformations of cortical development in children with drug-resistant epilepsy

NeuroImage, 2021
Objective: Malformations of cortical development (MCD), including focal cortical dysplasia (FCD), are the most common cause of drug-resistant focal epilepsy in children.
Sara Lorio, Jan Sedlacik, Po-Wah So, Harold G. Parkes, Roxana Gunny, Ulrike Löbel, Yao-Feng Li, Olumide Ogunbiyi, Talisa Mistry, Emma Dixon, Sophie Adler, J. Helen Cross, Torsten Baldeweg, Thomas S. Jacques, Karin Shmueli, David W Carmichael   +15 more
doaj   +1 more source