Results 311 to 320 of about 2,372,972 (378)

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

A Novel Genotype in Early Onset Atypical Absence Epilepsy

Kiren George Koshy, Alfiya Fasaludeen, Ramshekhar N. Menon   +2 more
openalex   +1 more source

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Absence Epilepsies

Epilepsia, 1995
Summary: Individuals fulfilling diagnostic criteria for childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) were selected from a large group of patients who were born between 1945 and 1973 and had presented with absence seizures (AS).
P, Loiseau, B, Duché, J M, Pédespan
openaire   +2 more sources

Reflex Absence Epilepsy

Epilepsia, 1988
Summary: Epilepsy can be triggered by many unusual mechanisms. Some are exceedingly rare and bizarre, seemingly confined to one patient. This article reports the case of a 20‐year‐old woman who has had absence epilepsy for 11 years that is evoked by thinking or talking about driving an automobile.
K S, Bencze, A, Troupin, L D, Prockop
openaire   +2 more sources

Epilepsy with Myoclonic absences

Brain and Development, 2005
Epilepsy with myoclonic absences is characterized clinically by absences accompanied by marked, diffuse, rhythmical myoclonias, often associated with a progressive tonic contraction. The ictal EEG shows bilateral, synchronous and symmetrical spike and wave discharges repeated at 3 Hz (similar to that observed in typical absences of childhood absence ...
Bureau M., TASSINARI, CARLO ALBERTO
openaire   +3 more sources

Epilepsy with myoclonic absences

The Indian Journal of Pediatrics, 2006
Epilepsy with myoclonic absences is a rare seizure disorder with intellectual impairment and resistance to conventional anti-convulsants. It is essential to diagnose epilepsy with myoclonic absences earlier for a better outcome. The authors present a case report to highlight this fact.
Talib Y, Surve, Gaurav, Mittal, Sandhya S, Khadse, Sushma A, Khanna   +3 more
openaire   +4 more sources