Results 41 to 50 of about 1,388,000 (303)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Surgical Management of Extratemporal Epilepsy [PDF]

Al-Azhar International Medical Journal, 2000
Background: Surgery is a commonly established therapy option for pharmaco-resistant extratemporal epilepsies. Aim and objectives: To evaluate the clinical outcome of different surgical procedures for patients admitted to Al-Azhar Hospitals with drug ...
Mohamed Mansour, Alaa Ibrahim, Sabry Negm   +2 more
doaj   +1 more source

Progress in the Genetics of the Partial Epilepsies [PDF]

Epilepsia, 2001
Summary: The importance of genetic contributions to the partial epilepsies is now well established. Evidence for this genetic contribution has come from familial aggregation studies, twin studies, positional cloning of specific genes that raise risk, and clinical descriptions of families.
openaire   +2 more sources

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

The partial occipital epilepsies in childhood: electroclinical delineation from the symptomatic to idiopatic cases.

, 1993
Analyiss of the partial occipital epilepsies in childhood: electroclinical features which allow to distinguish between idiopatic and symptomatic ...
CAPPELLARO O., DALLA BERNARDINA, Bernardo, CARABALLO R., FONTANA E., ZULLINI E., COLAMARIA V., DARRA, Francesca   +6 more
core   +1 more source

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures. [PDF]

PLoS ONE, 2010
BACKGROUND: Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial epilepsies and are frequently preceded by febrile seizures (FS) in infancy and early childhood.
Sarah Jamali, Annick Salzmann, Nader Perroud, Magali Ponsole-Lenfant, Jennifer Cillario, Patrice Roll, Nathalie Roeckel-Trevisiol, Ariel Crespel, Jorg Balzar, Kurt Schlachter, Ursula Gruber-Sedlmayr, Ekaterina Pataraia, Christoph Baumgartner, Alexander Zimprich, Fritz Zimprich, Alain Malafosse, Pierre Szepetowski   +16 more
doaj   +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

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Clinical study of levetiracetam or oxcarbazepine monotherapy in the treatment of focal epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To compare the clinical efficacy and safety of levetiracetam and oxcarbazepine in the treatment of focal epilepsy. Methods A total of 476 patients with focal epilepsy treated at Fujian Provincial Hospital from October 2020 to October 2022 were ...
WU Meng-qian, LI Yun-fei, LIN Shou-hua, ZHANG Xu, WANG Yin-zhou, WANG Qun   +5 more
doaj   +1 more source