Results 81 to 90 of about 33,305 (301)

Is ketogenic diet a ‘precision medicine’? Recent developments and future challenges

Recently, precision medicine has attracted much attention in the management of epilepsies, but it remains unclear if the increasingly utilized ketogenic diet approaches can truly be considered precision medicine in all epilepsy treatment.
Sortino V, Network for Therapy in Rare Epilepsies (NETRE)., Falsaperla R, Ruggieri M, Striano P, Kluger G, Ramantani G   +6 more
core   +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

A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families

Epilepsia Open
We aimed to identify caregivers' opinions on the outcome measures that matter in clinical trials in individuals with Dravet syndrome (DS). We conducted a prospective European multicenter study based on an 11 closed questions survey developed by the ...
Nicole Chemaly, Mathieu Kuchenbuch, Théo Teng, Elodie Marie, Gianluca D'Onofrio, Tommaso Lo Barco, Isabella Brambilla, Silke Flege, Anne‐Sophie Hallet, Rima Nabbout   +9 more
doaj   +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  

"Jasper's Basic Mechanisms of the Epilepsies" Workshop.

, 2010
In 1969, H.H. Jasper, A.A. Ward, and A. Pope and the Public Health Service Advisory Committee on the Epilepsies of the National Institutes of Health (NIH) published the first edition on Basic Mechanisms of the Epilepsies (BME).
Richard Olsen, Massimo Avoli, Antonio V. Delgado Escueta, AVOLI, Massimo, Antonio V. Delgado-Escueta, Michael Rogawski, Jeffrey L. Noebels   +6 more
core   +1 more source

Orbitofrontal epilepsy: Electroclinical analysis of surgical cases and literature review [PDF]

, 2004
Clinical and electrographic data were reviewed on 2 of our patients with orbitofrontal epilepsy who were seizure free at 5-year follow-up, and on 2 similar patients from the literature.
Winkler, Peter, Sillay, Karl, Smith, Joseph R., King, Don W., Loring, David W.   +4 more
core   +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

Association mapping of genomic microdeletions and common susceptibility variants predisposing to genetic generalized epilepsies

, 2013
Approximately 3% of the general population is affected by epilepsy during lifetime, making epilepsy one of the most common neurological diseases. Genetic generalized epilepsies (GGE) are the most common of genetic epilepsies and account for 20-30% of ...
Trucks, Holger Sebastian
core  

Treatable Genetic Metabolic Epilepsies [PDF]

, 2017
In the absence of a culprit epileptogenic lesion, pharmacoresistant seizures should prompt the physician to consider potentially treatable metabolic epilepsies, especially in the presence of developmental delays. Even though the anti-seizure treatment of
Assi, Lama, Saklawi, Youssef, Karam, Pascale E., Youssef Saklawi, Obeid, Makram, Pascale E. Karam, Makram Obeid, Lama Assi   +7 more
core   +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