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In the present study, we collected clinical and molecular data related to epileptic patients with<jats:italic>CACNA1A<\/jats:italic>pathogenic variants and investigated possible meaningful relationship between age at onset, neurodevelopmental disorders, type of seizures, brain imaging abnormalities, genotype, and protein domains.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our retrospective literature studies, from among 890 articles reviewed, a total of 90 individuals were related to epilepsy phenotype. Our findings showed that about 90 percent of patients have shown the first symptoms in childhood and teenage years and different types of neurodevelopmental disorders, such as intellectual disability, developmental arrest, and behavioral disorders, have been common findings for these patients. Further, a wide range of abnormalities have been observed in their brain imaging, and generalized seizures have been the most type of seizures in these patients. However, our data showed no specific genotype\u2013phenotype correlation in epileptic patients with<jats:italic>CACNA1A<\/jats:italic>pathogenic alterations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study focused on epileptic phenotype in patients with<jats:italic>CACNA1A<\/jats:italic>pathogenic variants and showed a wide range of clinical and molecular heterogeneity with no specific genotype\u2013phenotype correlation. It seems that incomplete penetrance,<jats:italic>de-novo<\/jats:italic>variants, and modifier genes are obstacles in predicting the clinical outcome.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13023-021-02101-y","type":"journal-article","created":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T11:03:03Z","timestamp":1635850983000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Clinical and molecular spectrum of P\/Q type calcium channel Cav2.1 in epileptic patients"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3894-726X","authenticated-orcid":false,"given":"Elham","family":"Alehabib","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Esmaeilizadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakineh","family":"Ranji-Burachaloo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbas","family":"Tafakhori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Darvish","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abolfazl","family":"Movafagh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,2]]},"reference":[{"issue":"8","key":"2101_CR1","doi-asserted-by":"publisher","first-page":"a003947","DOI":"10.1101\/cshperspect.a003947","volume":"3","author":"WA Catterall","year":"2011","unstructured":"Catterall WA. 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