Results 41 to 50 of about 384,910 (306)

The economic burden of KCNT1-related disorders in the United States: insights from caregiver-reported and EMR-derived data

BMC Health Services Research
Background KCNT1-related disorders are rare, severe neurogenetic disorders associated with early-onset, treatment-resistant seizures and significant developmental comorbidities.
Amanda Abuhl, Brad Bryan, Megan Wright, Allison Rosenberg, Justin West, Sarah Drislane   +5 more
doaj   +1 more source

Optogenetic inhibition of chemically induced hypersynchronized bursting in mice

Neurobiology of Disease, 2014
Synchronized activity is common during various physiological operations but can culminate in seizures and consequently in epilepsy in pathological hyperexcitable conditions in the brain.
Fredrik Berglind, Marco Ledri, Andreas Toft Sørensen, Litsa Nikitidou, Miriam Melis, Pascal Bielefeld, Deniz Kirik, Karl Deisseroth, My Andersson, Merab Kokaia   +9 more
doaj   +1 more source

Removal of a temporal lobe cavernous angioma to control epileptic seizures in a patient with tuberous sclerosis complex

Heliyon, 2020
Purpose: A patient with tuberous sclerosis complex (TSC) and a left temporal cavernous angioma (CA) presented with treatment-resistant epilepsy. We evaluated the patient to determine the best treatment option.
Kazuki Sakakura, Ayataka Fujimoto, Naoki Ichikawa, Shimpei Baba, Hideo Enoki, Tohru Okanishi   +5 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L., Muhle, H., Thiele, H., Lench, N, Krishna Chinthapalli, V, Krause, R, Sadleir, L. G., Gaudio, L.D., Moller, R. S., EURO Epinomics CoGIE Consortium, Afrikanova, T, Jocic-Jakubi, B., Capovilla, G., Myers, C., Myers, C. T., Sadleir, LG, Muhle, H, Nürnberg, P, Helbig, I., Parisi, P., EuroEPINOMICS CoGIE Consortium,, Pendziwiat, M., Stephani, U., Coppola, A., Kasteleijn-Nolst Trenité, D.G.A., Myers, CT, Chinthapalli, V. K., Krishna Chinthapalli, V., Stephani, U, Del Gaudio, L., de Kovel, C.G.F., Scheffer, I.E., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., Martins, T.G., Chinthapalli, V., Thiele, H, Kasteleijn-Nolst Trenité, DG, Lehesjoki, A., Crawford, A., Boustred, C., Lerche, H, Moller, R., Galizia, E. C., Ruppert, A. -K., Helbig, I, Schubert, J, Schneider, A. L., Mefford, H.C., Crawford, AD, Schubert, J., Schneider, A.L., Veggotti, P, Esguerra, CV, Striano, S., Ruppert, A., Berkovic, S., Galizia, EC, Cordero-Maldonado, M., Leu, C., Mefford, H. C., Martins, T. G., Palotie, A, Crawford, A. D., Ruppert, A.K., Covanis, A., Sisodiya, S., Ruppert, AK, Cordero-Maldonado, M. L., Møller, RS, Esguerra, C. V., Trenité, D. G. A. K. -N., Schneider, A., Coppola, A, Cantonetti, L, Leu, C, Del Gaudio, L, Cordero-Maldonado, ML, De Kovel, C. G. F., Berkovic, SF, Mullen, S. A., Trenité, DGAKN, Martins, T., Koeleman, BPC, Jacmin, M, Covanis, A, Boustred, C, Moller, RS, Martins, TG, Sisodiya, SM, Koeleman, B., Sander, T, Mullen, S.A., Sander, T., Nürnberg, P., Lehesjoki, A.E., Berkovic, S.F, Sisodiya, S.M., Mullen, SA, Cordero-Maldonado, M.L., Sadleir, L.G., Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Myers, C.T., Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Esguerra, C.V., Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Koeleman, B.P.C., Drury, S, Scheffer, IE, Galizia, E.C., Schneider, AL, Mefford, H., Møller, R.S., Krause, R., Galizia, E., Crawford, A.D., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +143 more
core   +1 more source

Epilepsy Secondary to a Giant AVM: A Case Report

Case Reports in Vascular Medicine
Intracranial arteriovenous malformations (AVMs) are vascular anomalies that can present with intracranial hemorrhage, seizures, or neurological deficits.
Emilio García Gómez, Daniela Carolina Pimentel Saona, Juan Romero Valencia, Lenin Sandoval Luna, Cristobal Jeronimo Ortega Arenas, Daniel San-Juan   +5 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

EPILEPSY. [PDF]

The Lancet
n ...
openaire   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source