What does this research mean for the field?

Comprehensive genomic diagnostics, including whole exome sequencing and targeted gene panels, demonstrate high clinical utility in pediatric epilepsy by identifying numerous novel pathogenic variants, with diagnostic yield proportional to the breadth of genomic interrogation. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.SUPPORTS_CONSENSUS.

What question did this study set out to answer?

To evaluate the clinical utility and diagnostic yield of targeted SCN1A testing alongside broader genomic strategies, including gene panels and whole exome sequencing, in paediatric-onset epilepsy.

August 30, 2026Human GeneticsOpen Access

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort

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Authors

RSRenáta Szalai ÁTÁgnes Till KGKrisztina Galimurka

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Overview

Cohort study reveals high diagnostic utility and novel SCN1A mutations in paediatric epilepsy, highlighting the value of comprehensive genomic testing.

Key Points

To evaluate the clinical utility and diagnostic yield of targeted SCN1A testing alongside broader genomic strategies, including gene panels and whole exome sequencing, in paediatric-onset epilepsy.
Assessed 431 individuals with heterogeneous paediatric-onset epilepsy phenotypes at the University of Pécs between 2018 and 2024.
Conducted molecular diagnostics using Sanger sequencing, targeted epilepsy gene panels, whole exome sequencing (WES), and multiplex ligation-dependent probe amplification (MLPA) for SCN1A copy number analysis.
Identified 36 pathogenic or likely pathogenic SCN1A variants, including 15 novel variants not previously reported in literature.
Detected 9 novel variants in 12 additional epilepsy-associated genes, while WES identified 6 novel variants across 19 genes, with diagnostic yield scaling directly with the breadth of genomic interrogation.

Cite This Study

Szalai et al. (2026) studied this question.

synapsesocial.com/papers/6a93f1396c1a8fb52e79df70 https://doi.org/10.1007/s00439-026-02867-w

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August 30, 2026Human GeneticsOpen Access

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort

View Full Paper

Ask AI

Bookmark

Authors

RSRenáta Szalai ÁTÁgnes Till KGKrisztina Galimurka

Discussion

Member takes

Overview

Cohort study reveals high diagnostic utility and novel SCN1A mutations in paediatric epilepsy, highlighting the value of comprehensive genomic testing.

Key Points

To evaluate the clinical utility and diagnostic yield of targeted SCN1A testing alongside broader genomic strategies, including gene panels and whole exome sequencing, in paediatric-onset epilepsy.
Assessed 431 individuals with heterogeneous paediatric-onset epilepsy phenotypes at the University of Pécs between 2018 and 2024.
Conducted molecular diagnostics using Sanger sequencing, targeted epilepsy gene panels, whole exome sequencing (WES), and multiplex ligation-dependent probe amplification (MLPA) for SCN1A copy number analysis.
Identified 36 pathogenic or likely pathogenic SCN1A variants, including 15 novel variants not previously reported in literature.
Detected 9 novel variants in 12 additional epilepsy-associated genes, while WES identified 6 novel variants across 19 genes, with diagnostic yield scaling directly with the breadth of genomic interrogation.

Cite This Study

Szalai et al. (2026) studied this question.

synapsesocial.com/papers/6a93f1396c1a8fb52e79df70 https://doi.org/10.1007/s00439-026-02867-w

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