Results 61 to 70 of about 63,715 (255)

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Early life seizures and epileptic spasms in

, 2023
BACKGROUND AND OBJECTIVES: Individuals with disease-causing variants in METHODS: We retrospectively reconstructed seizure and medication histories in weekly intervals for individuals with RESULTS: We included 61 individuals with early onset seizures, 29 ...
Sullivan, Katie Rose, Helbig, Ingo, Xian, Julie, Magielski, Jan, Ruggiero, Sarah M, Prosser, Ben, Goss, James, deCampo, Danielle, Parthasarathy, Shridhar, Thalwitzer, Kim M, Rigby, Charlene Son, Boland, Michael, Syrbe, Steffen   +12 more
core  

New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy

Frontiers in Neuroscience
ObjectiveTo explore the genotypic spectrum and refine the genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy (DEE).Methodswhole-exome sequencing or whole-genome sequencing was performed to all patients.
Ting Wang, Shijia Ouyang, Xueyang Niu, Miaomiao Cheng, Ying Yang, Yonghua Yang, Quanzhen Tan, Wenwei Liu, Xiaoling Yang, Yuehua Zhang   +9 more
doaj   +1 more source

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Epilepsia Open, 2023
Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu   +23 more
doaj   +1 more source

Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report

Epileptic Disorders, EarlyView.
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori, Hiroshi Terashima, Yu kakimoto, Mitsuhiro Kato, Shumpei Uchino   +4 more
wiley   +1 more source

Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome [PDF]

, 2014
PurposeTo evaluate the prognostic importance of electroencephalography (EEG) findings at cessation of epileptic spasms for seizure outcome.MethodsWe reviewed 71 children with West syndrome (cryptogenic 14) who had obtained control of epileptic spasms ...
Kimizu, Tomokazu, Mogami, Yukiko, Suzuki, Yasuhiro, Yanagihara, Keiko, Kimura, Sadami, Ikeda, Tae, Yamada, Keitaro, Toribe, Yasuhisa, Mano, Toshiyuki   +8 more
core   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Simultaneous intracranial EEG and fMRI of interictal epileptic discharges in humans [PDF]

, 2011
Simultaneous scalp EEG–fMRI measurements allow the study of epileptic networks and more generally, of the coupling between neuronal activity and haemodynamic changes in the brain.
Walker, M.C., Lemieux, L., Rodionov, R., McEvoy, A.W., Matthew C. Walker, Karin Rosenkranz, Rosenkranz, K., Serge Vulliemoz, David W. Carmichael, Beate Diehl, Louis Lemieux, Carmichael, D.W., Diehl, B., Vulliemoz, S., Roman Rodionov, Andrew W. McEvoy   +15 more
core   +1 more source

Postoperative outcomes and predictors of functional sequelae following hemispheric surgery in Rasmussen's encephalitis: A retrospective cohort study from the global pediatric epilepsy surgery registry

Epileptic Disorders, EarlyView.
Abstract Objective Rasmussen's encephalitis (RE) is a rare and progressive, immune‐mediated epileptic encephalopathy characterized by drug‐resistant seizures and neurological decline. While hemispheric disconnection (HD) is the gold standard treatment for effective seizure control, this procedure carries significant risk of permanent neurological ...
Krish Nair, Nicholas Benjamin, Emily Harford, Levi Shelton, Ariel Heller, Katherine Cobb‐Pitstick, Luis Fernandez, Ross Carson, Monika Jones, William Welch, Taylor J. Abel, Ruba Al‐Ramadhani   +11 more
wiley   +1 more source

Surgical Outcomes for Intractable Epilepsy in Children With Epileptic Spasms

, 2011
Epileptic spasms, or seizures marked by flexor, extensor, or flexor-extensor spasms, are not always responsive to medical management. The purpose of our study was to evaluate the outcome of epilepsy surgery in children with medically intractable ...
Katherine Nickels, Brian D. Moseley, Elaine C. Wirrell   +2 more
core   +1 more source