Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Abstract Background Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel that is broadly expressed in the central nervous system, and the path...

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Autores principales:	Elham Alehabib, Zahra Esmaeilizadeh, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Hossein Darvish, Abolfazl Movafagh
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	CACNA1A Epilepsy Calcium channels Intellectual disability Neurodevelopmental disorder Brain imaging abnormalities Medicine R
Acceso en línea:	https://doaj.org/article/f5531ff8f5d94adcb61d96840a9e3938
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spelling	oai:doaj.org-article:f5531ff8f5d94adcb61d96840a9e39382021-11-08T10:56:56ZClinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients10.1186/s13023-021-02101-y1750-1172https://doaj.org/article/f5531ff8f5d94adcb61d96840a9e39382021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02101-yhttps://doaj.org/toc/1750-1172Abstract Background Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel that is broadly expressed in the central nervous system, and the pathogenic variants within this gene may be associated with the epileptic phenotype. In the present study, we collected clinical and molecular data related to epileptic patients with CACNA1A pathogenic variants and investigated possible meaningful relationship between age at onset, neurodevelopmental disorders, type of seizures, brain imaging abnormalities, genotype, and protein domains. Results 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–phenotype correlation in epileptic patients with CACNA1A pathogenic alterations. Conclusions Our study focused on epileptic phenotype in patients with CACNA1A pathogenic variants and showed a wide range of clinical and molecular heterogeneity with no specific genotype–phenotype correlation. It seems that incomplete penetrance, de-novo variants, and modifier genes are obstacles in predicting the clinical outcome.Elham AlehabibZahra EsmaeilizadehSakineh Ranji-BurachalooAbbas TafakhoriHossein DarvishAbolfazl MovafaghBMCarticleCACNA1AEpilepsyCalcium channelsIntellectual disabilityNeurodevelopmental disorderBrain imaging abnormalitiesMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	CACNA1A Epilepsy Calcium channels Intellectual disability Neurodevelopmental disorder Brain imaging abnormalities Medicine R
spellingShingle	CACNA1A Epilepsy Calcium channels Intellectual disability Neurodevelopmental disorder Brain imaging abnormalities Medicine R Elham Alehabib Zahra Esmaeilizadeh Sakineh Ranji-Burachaloo Abbas Tafakhori Hossein Darvish Abolfazl Movafagh Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
description	Abstract Background Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel that is broadly expressed in the central nervous system, and the pathogenic variants within this gene may be associated with the epileptic phenotype. In the present study, we collected clinical and molecular data related to epileptic patients with CACNA1A pathogenic variants and investigated possible meaningful relationship between age at onset, neurodevelopmental disorders, type of seizures, brain imaging abnormalities, genotype, and protein domains. Results 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–phenotype correlation in epileptic patients with CACNA1A pathogenic alterations. Conclusions Our study focused on epileptic phenotype in patients with CACNA1A pathogenic variants and showed a wide range of clinical and molecular heterogeneity with no specific genotype–phenotype correlation. It seems that incomplete penetrance, de-novo variants, and modifier genes are obstacles in predicting the clinical outcome.
format	article
author	Elham Alehabib Zahra Esmaeilizadeh Sakineh Ranji-Burachaloo Abbas Tafakhori Hossein Darvish Abolfazl Movafagh
author_facet	Elham Alehabib Zahra Esmaeilizadeh Sakineh Ranji-Burachaloo Abbas Tafakhori Hossein Darvish Abolfazl Movafagh
author_sort	Elham Alehabib
title	Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
title_short	Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
title_full	Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
title_fullStr	Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
title_full_unstemmed	Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
title_sort	clinical and molecular spectrum of p/q type calcium channel cav2.1 in epileptic patients
publisher	BMC
publishDate	2021
url	https://doaj.org/article/f5531ff8f5d94adcb61d96840a9e3938
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_version_	1718442485223522304

Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

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