Results 251 to 260 of about 125,953 (296)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Reply to Füller et al.: Exome-wide genetic associations with socioeconomic status and their pleiotropy among health outcomes. [PDF]

Proc Natl Acad Sci U S A
Wu XR, Yang L, Wu BS, Cheng W, Yu JT.
europepmc   +1 more source

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

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

Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene. [PDF]

Dev Neurobiol
Ünsel-Bolat G, Gerik-Celebi HB, Durgut BD, Türkyılmaz A, Bolat H.   +4 more
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

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis. [PDF]

NPJ Genom Med
Chui MM, Kwong AK, Leung HYC, Pang C, Scheller IF, Wong SS, Fung CW, Yépez VA, Gagneur J, Mak CC, Chung BH.   +10 more
europepmc   +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

C1q monogenic lupus: a case series and review. [PDF]

Rheumatol Adv Pract
Haque I, Mitra K, Sircar G, Ghosh P, Mondol S, Haldar S, Ghosh D, Roongta R.   +7 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