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Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy
Bryony Silksmith1, Pinki Munot2, Luke Starling3
1Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Insights
Diagnosing unexplained episodic apnoea in infants is challenging. A proposed apnoea gene panel aims to expedite diagnosis for rare genetic disorders, reducing infant morbidity and mortality.
Area of Science:
- Pediatric Medicine
- Genetics
- Neurology
Background:
- Unexplained episodic apnoea in infants, including Brief Resolved Unexplained Events (BRUE), presents diagnostic challenges.
- Recurrent apnoea may indicate serious, potentially fatal genetic disorders, often with delayed or posthumous diagnoses.
- These rare genetic conditions are difficult for general pediatricians to identify, leading to significant morbidity if untreated.
Purpose of the Study:
- To simplify and expedite the diagnostic journey for infants with unexplained recurrent apnoea.
- To propose a targeted genetic testing approach for early identification of underlying rare diseases.
Main Methods:
- Development of a comprehensive apnoea gene panel for hospital specialists.
- Utilizing the gene panel for infants presenting with recurrent apnoea of unknown etiology.
Main Results:
- The apnoea gene panel aims to streamline the diagnostic process, moving away from identifying individual rare conditions.
- Anticipated outcome is faster diagnosis and improved access to available pharmacotherapies.
Conclusions:
- Implementing an apnoea gene panel can significantly reduce diagnostic delays for infants with unexplained recurrent apnoea.
- This approach holds the potential to decrease morbidity and mortality associated with undiagnosed rare genetic disorders in infants.
Abstract:
Unexplained episodic apnoea in infants (aged ≤1 year), including recurrent brief (<1 min) resolved unexplained events (known as BRUE), can be a diagnostic challenge. Recurrent unexplained apnoea might suggest a persistent, debilitating, and potentially fatal disorder. Genetic diseases are prevalent among this group, particularly in those who present with paroxysmal or episodic neurological symptoms. These disorders are individually rare and challenging for a general paediatrician to recognise, and there is often a delayed or even posthumous diagnosis (sometimes only made in retrospect when a second sibling becomes unwell). The disorders can be debilitating if untreated but pharmacotherapies are available for the vast majority. That any child should suffer from unnecessary morbidity or die from one of these disorders without a diagnosis or treatment having been offered is a tragedy; therefore, there is an urgent need to simplify and expedite the diagnostic journey. We propose an apnoea gene panel for hospital specialists caring for any infant who has recurrent apnoea without an obvious cause. This approach could remove the need to identify individual rare conditions, speed up diagnosis, and improve access to therapy, with the ultimate aim of reducing morbidity and mortality.
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