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Updated: May 21, 2025

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Phenotypic variability in cases with CACNA1A mutation.

Sema Bozkaya-Yilmaz1, Nihal Olgac-Dundar2, Nargiz Aliyeva3

  • 1Department of Pediatric Neurology, Bursa State Hospital, Bursa, Turkey. semabozkayayilmaz@gmail.com.

European Journal of Pediatrics
|March 20, 2025
PubMed
Summary
This summary is machine-generated.

CACNA1A gene variants cause diverse neurological symptoms, including epilepsy and developmental issues. Understanding these varied clinical profiles is crucial for accurate diagnosis and treatment of related neurological disorders.

Keywords:
CACNA1AEpilepsyGeneticNeurodevelopmental disorder

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • CACNA1A gene variants disrupt calcium signaling, affecting neuronal development and function.
  • These variants are linked to neurodevelopmental disorders with symptoms like intellectual disability and social interaction problems.

Purpose of the Study:

  • To enhance understanding of CACNA1A gene variants by detailing clinical profiles of affected patients.
  • To identify challenges faced by clinicians due to overlapping features and variable phenotypes.

Main Methods:

  • Clinical data, including features, examinations, and treatments, were collected using a standardized form.
  • Thirty-one patients with CACNA1A variants from 11 Turkish clinics were analyzed and compared with existing literature.

Main Results:

  • Epilepsy (87%), neurodevelopmental defects (61%), ataxia (32%), and cerebellar atrophy (30%) were common manifestations.
  • Clinical presentations ranged from congenital hypotonia to motor seizures, with significant intrafamilial variability observed.

Conclusions:

  • CACNA1A variants impact Cav2.1 channels, causing diverse neurological symptoms. Environmental factors and modifier genes may influence phenotype variability.
  • Further research is needed to understand the mechanisms behind the varied presentations and improve diagnostic and treatment strategies.