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<p>Genetic mutations in <i>CACNA1A</i> are associated with severe forms of epileptic encephalopathy. The <i>CACNA1A</i> gene encodes the alpha-1 subunit of the voltage-gated calcium channel CaV2.1 (P/Q-type), which is critical for synaptic transmission and neuronal excitability. Pathogenic variants in this gene have been associated with early-onset epileptic encephalopathies such as Ohtahara syndrome, Lennox-Gastaut syndrome, and autosomal dominant developmental and epileptic encephalopathy. The aim of the study was to identify pathogenic <i>CACNA1A</i> variants in patients with developmental and epileptic encephalopathy and to characterize a new pathogenic variant in this gene. We assessed the clinical and genetic implications of a newly identified variant c.2134G&gt;T (p.Ala712Ser), which expands the mutational spectrum of <i>CACNA1A</i>-associated epileptic encephalopathies. Comparative analysis of this variant with the known pathogenic variant c.2134G&gt;A (p.Ala712Thr) reveals common and distinctive clinical features between the two patients, highlighting the role of the studied amino acid residue in the development of neurological diseases.</p>

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Identification and Characterization of a Novel CACNA1A Variant in Epileptic Encephalopathy

  • 期刊论文

  • 发表日期：

    2025年3月1日

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  • A. S. Ivanova,
  • N. G. Danilenko,
  • S. L. Kulikova,
  • L. N. Sivitskaya,
  • M. G. Siniauskaya

摘要

Genetic mutations in CACNA1A are associated with severe forms of epileptic encephalopathy. The CACNA1A gene encodes the alpha-1 subunit of the voltage-gated calcium channel CaV2.1 (P/Q-type), which is critical for synaptic transmission and neuronal excitability. Pathogenic variants in this gene have been associated with early-onset epileptic encephalopathies such as Ohtahara syndrome, Lennox-Gastaut syndrome, and autosomal dominant developmental and epileptic encephalopathy. The aim of the study was to identify pathogenic CACNA1A variants in patients with developmental and epileptic encephalopathy and to characterize a new pathogenic variant in this gene. We assessed the clinical and genetic implications of a newly identified variant c.2134G>T (p.Ala712Ser), which expands the mutational spectrum of CACNA1A-associated epileptic encephalopathies. Comparative analysis of this variant with the known pathogenic variant c.2134G>A (p.Ala712Thr) reveals common and distinctive clinical features between the two patients, highlighting the role of the studied amino acid residue in the development of neurological diseases.