Genetic testing for the epilepsies: a systematic review

BR Sheidley, J Malinowski, AL Bergner, L Bier… - …, 2022 - Wiley Online Library
Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

Genetic testing in the epilepsies—developments and dilemmas

A Poduri, BR Sheidley, S Shostak… - Nature reviews Neurology, 2014 - nature.com
In the past two decades, the number of genes recognized to have a role in the epilepsies
has dramatically increased. The availability of testing for epilepsy-related genes is …

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster… - Neurology, 2013 - AAN Enterprises
Objectives: To determine the frequency of KCNQ2 mutations in patients with neonatal
epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic …

Copy number variation plays an important role in clinical epilepsy

H Olson, Y Shen, J Avallone, BR Sheidley… - Annals of …, 2014 - Wiley Online Library
Objective To evaluate the role of copy number abnormalities detectable using chromosomal
microarray (CMA) testing in patients with epilepsy at a tertiary care center. Methods We …

Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

HE Olson, MK Kelly, CM LaCoursiere… - Annals of …, 2017 - Wiley Online Library
Objective We sought to identify genetic causes of early onset epileptic encephalopathies
with burst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and …

Diagnostic yield of genetic tests in epilepsy: a meta-analysis and cost-effectiveness study

I Sanchez Fernandez, T Loddenkemper… - Neurology, 2019 - AAN Enterprises
Objective To compare the cost-effectiveness of genetic testing strategies in patients with
epilepsy of unknown etiology. Methods This meta-analysis and cost-effectiveness study …

Genetic testing and counseling for the unexplained epilepsies: an evidence‐based practice guideline of the National Society of Genetic Counselors

L Smith, J Malinowski, S Ceulemans… - Journal of Genetic …, 2023 - Wiley Online Library
Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked
seizure with a propensity for others, affects 0.64% of the population and can lead to …

Assessing the landscape of STXBP1-related disorders in 534 individuals

J Xian, S Parthasarathy, SM Ruggiero, G Balagura… - Brain, 2022 - academic.oup.com
Disease-causing variants in STXBP1 are among the most common genetic causes of
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related …

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

A Brunklaus, J Du, F Steckler, II Ghanty… - …, 2020 - Wiley Online Library
Objective Voltage‐gated sodium channels (SCNs) share similar amino acid sequence,
structure, and function. Genetic variants in the four human brain‐expressed SCN genes …

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

HY Koh, L Smith, KN Wiltrout, A Podury… - JAMA network …, 2023 - jamanetwork.com
Importance Genomic advances inform our understanding of epilepsy and can be translated
to patients as precision diagnoses that influence clinical treatment, prognosis, and …