Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature
Calcium channels are an integral component in maintaining cellular function. Alterations may lead to channelopathies, primarily manifested in the central nervous system. This study describes the clinical and genetic features of a unique 12-year-old boy harboring two congenital calcium channelopathie...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-02-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/14/2/400 |
| _version_ | 1797620807739899904 |
|---|---|
| author | Donna Schaare Sara M. Sarasua Laina Lusk Shridhar Parthasarathy Liangjiang Wang Ingo Helbig Luigi Boccuto |
| author_facet | Donna Schaare Sara M. Sarasua Laina Lusk Shridhar Parthasarathy Liangjiang Wang Ingo Helbig Luigi Boccuto |
| author_sort | Donna Schaare |
| collection | DOAJ |
| description | Calcium channels are an integral component in maintaining cellular function. Alterations may lead to channelopathies, primarily manifested in the central nervous system. This study describes the clinical and genetic features of a unique 12-year-old boy harboring two congenital calcium channelopathies, involving the <i>CACNA1A</i> and <i>CACNA1F</i> genes, and provides an unadulterated view of the natural history of sporadic hemiplegic migraine type 1 (SHM1) due to the patient’s inability to tolerate any preventative medication. The patient presents with episodes of vomiting, hemiplegia, cerebral edema, seizure, fever, transient blindness, and encephalopathy. He is nonverbal, nonambulatory, and forced to have a very limited diet due to abnormal immune responses. The SHM1 manifestations apparent in the subject are consistent with the phenotype described in the 48 patients identified as part of a systematic literature review. The ocular symptoms of <i>CACNA1F</i> align with the family history of the subject. The presence of multiple pathogenic variants make it difficult to identify a clear phenotype–genotype correlation in the present case. Moreover, the detailed case description and natural history along with the comprehensive review of the literature contribute to the understanding of this complex disorder and point to the need for comprehensive clinical assessments of SHM1. |
| first_indexed | 2024-03-11T08:46:51Z |
| format | Article |
| id | doaj.art-62fe985cac444c1c8b8496e39af43623 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T08:46:51Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-62fe985cac444c1c8b8496e39af436232023-11-16T20:42:27ZengMDPI AGGenes2073-44252023-02-0114240010.3390/genes14020400Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the LiteratureDonna Schaare0Sara M. Sarasua1Laina Lusk2Shridhar Parthasarathy3Liangjiang Wang4Ingo Helbig5Luigi Boccuto6Ph.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USAPh.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USADivision of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USADivision of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USADepartment of Genetics and Biochemistry, College of Science, Clemson University, Clemson, SC 29634, USADepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USAPh.D. Program in Healthcare Genetics and Genomics, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USACalcium channels are an integral component in maintaining cellular function. Alterations may lead to channelopathies, primarily manifested in the central nervous system. This study describes the clinical and genetic features of a unique 12-year-old boy harboring two congenital calcium channelopathies, involving the <i>CACNA1A</i> and <i>CACNA1F</i> genes, and provides an unadulterated view of the natural history of sporadic hemiplegic migraine type 1 (SHM1) due to the patient’s inability to tolerate any preventative medication. The patient presents with episodes of vomiting, hemiplegia, cerebral edema, seizure, fever, transient blindness, and encephalopathy. He is nonverbal, nonambulatory, and forced to have a very limited diet due to abnormal immune responses. The SHM1 manifestations apparent in the subject are consistent with the phenotype described in the 48 patients identified as part of a systematic literature review. The ocular symptoms of <i>CACNA1F</i> align with the family history of the subject. The presence of multiple pathogenic variants make it difficult to identify a clear phenotype–genotype correlation in the present case. Moreover, the detailed case description and natural history along with the comprehensive review of the literature contribute to the understanding of this complex disorder and point to the need for comprehensive clinical assessments of SHM1.https://www.mdpi.com/2073-4425/14/2/400<i>CACNA1A</i><i>CACNA1F</i>channelopathycalcium channelhemiplegic migrainesporadic hemiplegic migraine type 1 (SHM1) |
| spellingShingle | Donna Schaare Sara M. Sarasua Laina Lusk Shridhar Parthasarathy Liangjiang Wang Ingo Helbig Luigi Boccuto Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature Genes <i>CACNA1A</i> <i>CACNA1F</i> channelopathy calcium channel hemiplegic migraine sporadic hemiplegic migraine type 1 (SHM1) |
| title | Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature |
| title_full | Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature |
| title_fullStr | Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature |
| title_full_unstemmed | Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature |
| title_short | Concomitant Calcium Channelopathies Involving <i>CACNA1A</i> and <i>CACNA1F:</i> A Case Report and Review of the Literature |
| title_sort | concomitant calcium channelopathies involving i cacna1a i and i cacna1f i a case report and review of the literature |
| topic | <i>CACNA1A</i> <i>CACNA1F</i> channelopathy calcium channel hemiplegic migraine sporadic hemiplegic migraine type 1 (SHM1) |
| url | https://www.mdpi.com/2073-4425/14/2/400 |
| work_keys_str_mv | AT donnaschaare concomitantcalciumchannelopathiesinvolvingicacna1aiandicacna1fiacasereportandreviewoftheliterature AT saramsarasua concomitantcalciumchannelopathiesinvolvingicacna1aiandicacna1fiacasereportandreviewoftheliterature AT lainalusk concomitantcalciumchannelopathiesinvolvingicacna1aiandicacna1fiacasereportandreviewoftheliterature AT shridharparthasarathy concomitantcalciumchannelopathiesinvolvingicacna1aiandicacna1fiacasereportandreviewoftheliterature AT liangjiangwang concomitantcalciumchannelopathiesinvolvingicacna1aiandicacna1fiacasereportandreviewoftheliterature AT ingohelbig concomitantcalciumchannelopathiesinvolvingicacna1aiandicacna1fiacasereportandreviewoftheliterature AT luigiboccuto concomitantcalciumchannelopathiesinvolvingicacna1aiandicacna1fiacasereportandreviewoftheliterature |