What is the clinical evidence from this study?

Study design: Case Report. Population: Neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders (n=1). Intervention: Whole-exome sequencing. Primary outcome: Identification of genetic mutation.

What does this research mean for the field?

De novo heterozygous missense mutations in SCN8A can cause early infantile epileptic encephalopathy accompanied by movement disorders and congenital anomalies. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

December 18, 2013Journal of Child Neurology

De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

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Key result

Whole-exome sequencing identifies a de novo SCN8A mutation in early infantile epileptic encephalopathy.

Why the study?

Epileptic encephalopathies are clinically and genetically heterogeneous with most cases of unknown etiology, necessitating genetic investigation to identify causes.

Population

A boy with neonatal seizures, movement disorders, and multiple congenital anomalies

Comparison

Whole-exome sequencing of a parent-offspring trio

Design

Case report

Follow-up

17 months

Authors

UVUlvi VaherUniversity of Tartu MNMargit NõukasUniversity of Tartu TNTiit NikopensiusUniversity of Tartu

Discussion

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Implication

Should not yet change clinical practice in epileptic encephalopathies; hypothesis-generating for a novel cause requiring replication.

Study Design

Type

Case Report (n=1)

Structured PICO

Population

A boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at 17 months, evaluated alongside his parents using whole-exome sequencing.

Exposure

Whole-exome sequencing of a parent-offspring trio

Outcome

Identification of genetic mutation causing the phenotype

Identifies a novel de novo SCN8A mutation associated with early infantile epileptic encephalopathy and a broad phenotypic spectrum.

Cite This Study

Vaher et al. (2013) conducted a case report in Neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders (n=1). Whole-exome sequencing was evaluated on Identification of genetic mutation. Whole-exome sequencing identified a de novo heterozygous missense mutation (c.3979A>G; p.Ile1327Val) in the SCN8A gene in a boy with early infantile epileptic encephalopathy.

synapsesocial.com/papers/6aae247265995d7e91ad056d https://doi.org/10.1177/0883073813511300

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De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Also Consider

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