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Determination of the Relative Cell Surface and Total Expression of Recombinant Ion Channels Using Flow Cytometry
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Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature

Donna Schaare1, Sara M Sarasua1, Laina Lusk2

  • 1Ph.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USA.

Genes
|February 25, 2023
PubMed

Insights

This study details a boy with two calcium channelopathies, highlighting the natural history of sporadic hemiplegic migraine type 1 (SHM1) without preventative treatments. The case emphasizes the complexity of genotype-phenotype correlations in rare neurological disorders.

Area of Science:

  • Neuroscience
  • Genetics
  • Cellular Biology

Background:

  • Calcium channels are crucial for cellular function; dysregulation causes channelopathies, often affecting the central nervous system.
  • Sporadic hemiplegic migraine type 1 (SHM1) is a severe neurological disorder linked to calcium channel dysfunction.
  • Congenital channelopathies present unique challenges in understanding disease progression and genetic correlations.

Approach:

  • Detailed clinical and genetic analysis of a 12-year-old boy with dual congenital calcium channelopathies (CACNA1A and CACNA1F).
  • Documented the patient's natural history of SHM1, focusing on symptoms and the impact of medication intolerance.
  • Conducted a systematic literature review of 48 SHM1 patients to compare phenotypes and establish correlations.

Key Points:

  • The patient exhibits severe SHM1 symptoms including hemiplegia, cerebral edema, seizures, and encephalopathy, alongside ocular issues linked to CACNA1F.
  • Inability to tolerate preventative medications provided an unadulterated view of SHM1's natural history.
  • Multiple pathogenic variants complicated definitive genotype-phenotype correlation in this unique case.

Conclusions:

  • This case underscores the severe phenotype associated with CACNA1A and CACNA1F channelopathies, particularly SHM1.
  • Understanding the natural history is vital for managing complex channelopathies, especially when preventative treatments are not tolerated.
  • Comprehensive clinical evaluation is essential for diagnosing and managing SHM1 and related disorders.

Keywords:
CACNA1ACACNA1Fcalcium channelchannelopathyhemiplegic migraineimmune dysfunctionsporadic hemiplegic migraine type 1 (SHM1)

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