Genetic Testing in Pediatric Epilepsy

Overview

Journal Curr Neurol Neurosci Rep

Specialty Neurology

Date 2017 Apr 14

PMID 28405954

Citations 16

Authors

Tristan T Sands

Hyunmi Choi

Affiliations

Soon will be listed here.

Abstract

Purpose Of Review: This article summarizes the emerging landscape of pediatric epilepsy, highlighting genetic contributions, and reviews approaches to genetic evaluation for pediatric epilepsy in this context.

Recent Findings: Advances in understanding the genetic basis for epilepsy over the last several years have been due in large part to the identification of de novo genetic variation underlying sporadic severe epilepsy in children; the genetic underpinnings of the more common epilepsies remain largely unknown. Next-generation sequencing approaches have been added to the repertoire of clinical tests for the evaluation of pediatric epilepsy, improving our ability to make positive diagnoses. Yields of over 50% are now being reported in selected groups of patients. Genetic variation contributing to the risk for pediatric epilepsy spans continua of scale and influence. The highest yield of genetic testing is currently in children with sporadic severe epilepsy caused by de novo variation. The approach to genetic evaluation and interpretation of results requires an understanding of (1) the epilepsy phenotype and (2) the particular advantages and limitations of the different genetic tests available. Our understanding of genetic variation will continue to improve over time and "negative" results are best conceptualized as "unresolved" or "negative for now."

Citing Articles

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Cavirani B, Spagnoli C, Caraffi S, Cavalli A, Cesaroni C, Cutillo G Int J Mol Sci. 2024; 25(2).

PMID: 38279250 PMC: 10816990. DOI: 10.3390/ijms25021248.

De Novo Variant in the Gene as a Possible Cause of Neonatal Seizures.

Kochetkova T, Maslennikov D, Tolmacheva E, Shubina J, Bolshakova A, Suvorova D Genes (Basel). 2023; 14(2).

PMID: 36833293 PMC: 9956824. DOI: 10.3390/genes14020366.

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Akbar F, Saleh R, Kirmani S, Chand P, Mukhtiar K, Jan F Epilepsy Behav Rep. 2022; 20:100575.

PMID: 36471706 PMC: 9719086. DOI: 10.1016/j.ebr.2022.100575.

Whole-Exome Sequencing Identifies Novel and Genes Mutations in the Cohort of Saudi Patients With Epilepsy.

Naseer M, Abdulkareem A, Rasool M, Algahtani H, Muthaffar O, Pushparaj P Front Pediatr. 2022; 10:919996.

PMID: 35813387 PMC: 9257097. DOI: 10.3389/fped.2022.919996.

Yang X, Ginjupalli V, Theriault O, Poulin H, Appendino J, Au P J Neurophysiol. 2022; 127(5):1388-1397.

PMID: 35417276 PMC: 9109789. DOI: 10.1152/jn.00309.2021.

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