Results 81 to 90 of about 53,278 (329)

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy. [PDF]

, 2019
Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child.
Gandini, Maria A, Lerner, Jason, Matsumoto, Joyce, Mitchell, Wendy G, Pierson, Tyler Mark, Souza, Ivana A, Zamponi, Gerald W, Zhang, Fang-Xiong   +7 more
core   +3 more sources

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

2015 ACVIM Small Animal Consensus Statement on Seizure Management in Dogs [PDF]

, 2016
This report represents a scientific and working clinical consensus statement on seizure management in dogs based on current literature and clinical expertise.
Bunch SE, Bunch SE, Cheuk DK, Cunningham JG, Dayrell‐Hart B, Durkes TE, Dyer KR, E.E. Patterson, Farnbach GC, Farnbach GC, Forrester SD, Frey HH, Gaskill CL, Gaskill CL, H.A. Volk, Jacobs G, Jennings PB, K. Muñana, Kantrowitz LB, M. Berendt, M. Podell, March PA, Masuda Y, Nichols ES, Patterson E, Pearce L, Pedersoli WM, Perrucca E, Poffenbarger EM, Ravis WR, S.R. Platt, Schwartz‐Porsche D, Schwartz‐Porsche D, Steinberg M, Thurman GD, Trepanier LA, Trepanier LA, W. Löscher   +37 more
core   +2 more sources

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

Pathophysiological role of extrasynaptic GABAA receptors in typical absence epilepsy [PDF]

, 2011
GABA is the principal inhibitory neurotransmitter in the mammalian CNS. It acts via two classes of receptors, the GABAA, a ligand gated ion channel (ionotropic receptor) and the metabotropic G-protein coupled GABAB receptor.
Crunelli, Vincenzo, Di Giovanni, Giuseppe, Errington, Adam C.   +2 more
core  

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

The Evidence Behind the Treatment of Canine Idiopathic Epilepsy [PDF]

, 2016
Oral phenobarbital and imepitoin in particular, followed by potassium bromide and levetiracetam are likely to be effective for the treatment of canine idiopathic epilepsy. There is strong evidence supporting the use of oral phenobarbital and imepitoin as
Brodbelt, D C, Charalambous, M, Volk, H A   +2 more
core   +6 more sources

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]

, 2017
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C, Carss, Kj, Dale, Rc, Danti, FEDERICA RACHELE, Galosi, Serena, Guerrini, R. 1., Kurian, Ma, Leuzzi, Vincenzo, Mahant, N, Mcshane, T, Mctague, A, Mohammad, Ss, Montomoli, M, Ng, J, Parrini, E, Raymond, Fl, Romani, M, Samanta, R, Shah, U, Vadlamani, G, Valente, Em   +20 more
core   +3 more sources

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source