Results 261 to 270 of about 883,556 (350)

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

Proteome microarray-guided identification of mycobacterial antigens and ELISA-based peptide mapping for improved serological detection of <i>Mycobacterium bovis</i> infection in European badgers. [PDF]

open access: yesJ Clin Microbiol
Williams GA   +11 more
europepmc   +1 more source

SV2A expression in blood cells as a possible biomarker candidate for levetiracetam treatment response

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to evaluate whether synaptic vesicle protein 2A (SV2A) expression on peripheral immune cells predicts treatment response to levetiracetam in epilepsy. Methods High‐dimensional flow cytometry was used to prospectively assess SV2A expression on immune cells from levetiracetam responders, nonresponders, and ...
Johannes Lang   +4 more
wiley   +1 more source

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

open access: yesEpilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis   +27 more
wiley   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

open access: yesEpilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis   +8 more
wiley   +1 more source

Biosensor Based on pSi-SU-8-GQD Heterostructures for Enhanced Viral Detection by Dual Signal Amplification Strategy. [PDF]

open access: yesACS Omega
Popescu MA   +10 more
europepmc   +1 more source

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