Results 221 to 230 of about 237,110 (353)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Situs Inversus Totalis: A Case Report and Literature Review. [PDF]

Clin Case Rep
Du X, Wang N, Sheng J, Zhang Y, Gao J.
europepmc   +1 more source

Exome sequencing as a second‐tier diagnostic approach for clinically suspected dysferlinopathy patients

, 2014
Marc Bartoli, Jean‐Pierre Desvignes, Nicolas Lévy, Krahn Martin   +3 more
openalex   +2 more sources

Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing

, 2020
Ying Peng, Jinxin Miao, Yafei Zhai, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
openalex   +1 more source

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

Endogenous Processes Underlying Clock-Like Mutational Signatures. [PDF]

Genes Chromosomes Cancer
Druck T, Aqeilan RI, Aldaz CM, Zanesi N, Huebner K.   +4 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

Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women. [PDF]

Diagnostics (Basel)
Kim SK, Hong SJ, Song SI, Lee JK, Kim G, Choi BJ, Seon S, Kim SJ, Ban JY, Kang SW.   +9 more
europepmc   +1 more source

Supplementary Table 4 from Whole-Exome Sequencing Identifies Mutation Profile and Mutation Signature-Based Clustering Associated with Prognosis in Appendiceal Pseudomyxoma Peritonei

Yu‐Lin Lin, Junqi Zhu, Ruiqing Ma, W Meng, Zi-Yue Wang, Xin-Bao Li, Ru Ma, He‐Liang Wu, Hong-Bin Xu, Ying Gao, Yan Li   +10 more
openalex   +1 more source

Predictors of etiology and drug resistance in children with new‐onset focal seizures

Epilepsia Open, EarlyView.
Abstract Objective To examine the clinical features of new‐onset focal seizures in children and investigate clinical associations and predictors of underlying etiology and drug resistance. Methods Data were gathered from The Children's Hospital at Westmead admissions for patients aged 1 month to 18 years who presented with new‐onset focal seizures ...
Byoung Chan Lee, Russell C. Dale, Elizabeth H. Barnes, Shekeeb S. Mohammad, Sachin Gupta, Chong Wong, Deepak Gill, Kavitha Kothur   +7 more
wiley   +1 more source