Results 281 to 290 of about 207,257 (328)

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
wiley   +1 more source

Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets. [PDF]

Sci Rep
Wong M, Liew B, Hum M, Lee NY, Lee ASG.
europepmc   +1 more source

Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study

Epilepsia Open, EarlyView.
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao   +9 more
wiley   +1 more source

A Breast Cancer Polygenic Risk Score Validation in 15,490 Brazilians Using Exome Sequencing. [PDF]

Diagnostics (Basel)
Eichemberger Rius F, Santa Cruz Guindalini R, Viana D, Salomão J, Gallo L, Freitas R, Bertolacini C, Taniguti L, Imparato D, Antunes F, Sousa G, Achjian R, Fukuyama E, Gregório C, Ventura I, Gomes J, Taniguti N, Maistro S, Krieger JE, Zheng Y, Huo D, Olopade OI, Azevedo Koike Folgueira MA, Schlesinger D.   +23 more
europepmc   +1 more source

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

, 2012
Kerstin Knies, Beatrice Schuster, Najim Ameziane, Martin A. Rooimans, Thomas Bettecken, Johan de Winter, Detlev Schindler   +6 more
openalex   +2 more sources

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure, EarlyView.
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
wiley   +1 more source

Late‐onset asystole associated with vagal nerve stimulation

Epilepsia Open, EarlyView.
Abstract Vagal nerve stimulation (VNS) is a form of neuromodulation that is an established adjunct in the management of drug‐resistant epilepsy. The common side effects of VNS are cough, dysphonia, or shortness of breath, which are often mild and do not require discontinuation of therapy.
Divya Nagabushana, Huan Huynh, Mark D. McCauley, Anna Serafini   +3 more
wiley   +1 more source

Exome sequencing identifies novel genes associated with cerebellar volume and microstructure. [PDF]

Commun Biol
Liang Y, Ma D, Li M, Wang Z, Hao C, Sun Y, Hao X, Zuo C, Li S, Feng Y, Qi S, Wang Y, Sun S, Xu YM, Andreassen OA, Shi C.   +15 more
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

HRProfiler Detects Homologous Recombination Deficiency in Breast and Ovarian Cancers Using Whole-Genome and Whole-Exome Sequencing Data. [PDF]

Cancer Res
Abbasi A, Steele CD, Bergstrom EN, Khandekar A, Farswan A, McKay RR, Pillay N, Alexandrov LB.   +7 more
europepmc   +1 more source