Results 41 to 50 of about 10,407 (218)

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

HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

Clinical and Translational Medicine, 2023
Background HCFC1 encodes transcriptional co‐regulator HCF‐1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X‐linked cobalamin metabolism disorders and mental retardation‐3.
Na He, Bao‐Zhu Guan, Jie Wang, Han‐Kui Liu, Yong Mao, Zhi‐Gang Liu, Fei Yin, Jing Peng, Bo Xiao, Bei‐sha Tang, Dong Zhou, Guang Huang, Qi‐Lin Dai, Ying Zeng, Hong Han, Qiong‐Xiang Zhai, Bin Li, Bin Tang, Wen‐Bin Li, Wang Song, Liu Liu, Yi‐Wu Shi, Bing‐Mei Li, Tao Su, Peng Zhou, Xiao‐Rong Liu, Li‐Wu Guo, Yong‐Hong Yi, Wei‐Ping Liao   +28 more
doaj   +1 more source

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Relationship of white matter hyperintensities with clinical features of seizures in patients with epilepsy

Arquivos de Neuro-Psiquiatria
Background: Although epilepsy is primarily known as a cortical disorder, there is growing body of research demonstrating white matter alterations in patients with epilepsy.
Ferda Ilgen USLU, Elif ÇETINTAŞ, İsmail YURTSEVEN, Alpay ALKAN, Mehmet KOLUKISA   +4 more
doaj   +1 more source

Estratégias terapêuticas em epilepsia.

Acta Médica Portuguesa, 1997
With the advances in the so-called classic antiepileptic drugs (AED)--carbamazepine, phenobarbital, phenytoin and valproate--monotherapy has become the most popular strategy for the treatment of epilepsies, based on their unquestionable clinical efficacy
J Pimentel
doaj   +1 more source

Is low antiepileptic drug dose effective in long-term seizure-free patients? [PDF]

Arquivos de Neuro-Psiquiatria, 2003
OBJECTIVE: To investigate the value of leaving seizure-free patients on low-dose medication. METHOD: This was an exploratory prospective randomized study conducted at our University Hospital.
Tânia A.M.O. Cardoso, Fernando Cendes, Carlos A.M. Guerreiro   +2 more
doaj   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

The clinical exploration of low ⁃frequency repetitive transcranial magnetic stimulation in refractory epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2010
Objective To observe the effectiveness of low⁃frequency and subthreshold repetitive transcranial magnetic stimulation (rTMS) on patients with refractory epilepsy. Methods Twelve subjects with refractory and focal epilepsy were involved.
Li⁃na ZHANG, Shi⁃jing WU, Hua⁃ying TAO, Qian LI   +3 more
doaj  

Recurrent abdominal pain: when an epileptic seizure should be suspected? [PDF]

Arquivos de Neuro-Psiquiatria, 2002
Recurrent episodes of abdominal pain are common in childhood. Among the diagnostic possibilities are migraine and abdominal epilepsy (AE). AE is an infrequent syndrome with paroxystic episodes of abdominal pain, awareness disturbance, EEG abnormalities ...
Renata C. Franzon, Camila F. Lopes, Kátia M.R. Schmutzler, Maria Isabel R. Morais, Marilisa M. Guerreiro   +4 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