Results 171 to 180 of about 223,994 (298)

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

Annals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi, Chiara Milano, Laura Marmolejo, Ana Beatriz Serafim, Esther Aguilar, Mar Guasp, Elianet Fonseca, Mateus Mistieri Simabukuro, Raffaele Iorio, Yuki Fukami, Maria Lucia Schmitz Ferreira Santos, Takashi Miwa, Takashi Araga, Yuto Uchida, Masanori Kurihara, Satoshi Okada, Luz Victoria Garcia, Kenichi Kaida, Natalia Spinola Costa da Cunha, Alberto Vogrig, Florian Lamblin, Juna M. de Vries, Livia Almeida Dutra, Romana Höftberger, Maarten J. Titulaer, Jesús Planagumà, Lidia Sabater, Eugenia Martinez‐Hernandez, Thais Armangué, Francesc Graus, Takahiro Iizuka, Josep Dalmau, Marianna Spatola, Anti‐GABAAR encephalitis study group   +33 more
wiley   +1 more source

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a <i>KCNK9</i> Variant. [PDF]

Int Med Case Rep J
Verhoeven W, Spee I, Ockeloen CW, Pfundt R, Egger J.   +4 more
europepmc   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Juvenile Absence Epilepsy [PDF]

, 2020
openaire   +3 more sources

Endoscopic corpus callosotomy for drug-resistant epilepsy due to cerebral folate transporter deficiency: illustrative case. [PDF]

J Neurosurg Case Lessons
Balaguer Townsend A, Gopalka M, Bieber D, Raskin JS, Baker J, McRae AM, Widjaja E, Lam SK.   +7 more
europepmc   +1 more source

Introduction to Pediatric Epilepsy for Neuropsychology Students: A Literature Review [PDF]

, 2009
Silva, Marc A.
core   +1 more source

Epilepsy and EEG abnormalities in neurodegenerative dementias: toward a system epilepsy framework. [PDF]

Front Aging Neurosci
Manganotti P, Palacino F, Pavan S, Benussi A.   +3 more
europepmc   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain. [PDF]

Epilepsia Open
Muhammad A, Nosrati MSS, Dostmohammadi A, Madia F, Mancardi MM, Fornarino S, Bosisio L, Tavassol ZH, Omrani MD, Zara F, Scala M.   +10 more
europepmc   +1 more source

Cerebrospinal Fluid from Restless Legs Syndrome Patients Reduces Iron Uptake in Blood–Brain Barrier Endothelial Cells by Disrupting the Regulation of Transferrin Receptors

Annals of Neurology, EarlyView.
Model figure of BBBECs TfR1 regulation in control and RLS: Graphical representation of TfR1 regulation in ECs by IRPs and representing it can be dysregulated by miR‐124‐3p in ECs of RLS. FPN1, ferroportin; BBBEC, blood‐brain barrier endothelial cells; IRP, iron regulatory proytein1/2; TfR1, Transferrin receptor; IRE, Iron responsive elements; Tf ...
Kondaiah Palsa, Aurosman Pappus Sahu, David B. Rye, Lynn Marie Trotti, Irina A. Elcheva, Vladimir S. Spiegelman, James R. Connor   +6 more
wiley   +1 more source