Results 141 to 150 of about 122,559 (261)

Cenobamate use in super‐refractory status epilepticus: A report of three cases

Epileptic Disorders, EarlyView.
Abstract Objectives Super‐refractory status epilepticus (SRSE) is a neurological emergency with high morbidity and mortality. Cenobamate, a novel antiseizure medication, may be helpful in managing SRSE, but evidence is limited. Methods This retrospective case series reports the use of cenobamate as add‐on therapy in the management of three cases of ...
Marina Romozzi, Juan Luis Alcala‐Zermeno, Antonio Funcis, Federico Tosto, Marta Piccioli, Luigi Francesco Iannone, Riccardo Maviglia, Masahito Katsuki, Yasuhiko Matsumori, Paolo Calabresi, Raffaele Iorio, Catello Vollono   +11 more
wiley   +1 more source

Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey? [PDF]

HGG Adv
Roman TS, Gray SM, Sneddon TP, Foreman AKM, Lee K, Powell CM, Weck KE, Berg JS, Powell BC.   +8 more
europepmc   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia. [PDF]

BMC Med Genomics
Luo J, Li K, Yang R, Tang M, Ge J.
europepmc   +1 more source

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source

Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy. [PDF]

Neurol Genet
Wu F, Ji X, Cheng P, Zhao S, Feng S, Liu W, Chen J, Zhang X, Wang H, Chen Q.   +9 more
europepmc   +1 more source

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

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

EXaCT-2: an augmented and customizable oncology-focused whole exome sequencing platform. [PDF]

NPJ Precis Oncol
Waltman P, Chandra P, Eng KW, Wilkes DC, Park H, Pabon C, Delpe P, Bhinder B, Manohar J, Kane T, Fernandez E, Gorski K, Greco N, Simi M, Tang JM, Zisimopoulos P, King A, Al Assaad M, Ten Eyck T, Roberts D, Monge J, Demichelis F, Tam W, Ouseph MM, Sigaras A, Beltran H, Rennert H, Lindeman N, Song W, Solomon J, Mosquera JM, Kim R, Catalano J, Hassane DC, Sigouros M, Elemento O, Alonso A, Sboner A.   +37 more
europepmc   +1 more source

Whole Exome Sequencing [PDF]

, 2020
openaire   +1 more source