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Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR, Fan X, Shen Y, Chung WK. Lipman AR, et al. Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. Epub 2022 Jun 26. Clin Genet. 2022. PMID: 35722745 Free PMC article.
Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. ...Commonly reported phenotypes include developmental delay/intellectual disability (96%), hemiplegic migraines (36%), epis …
Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocere …
De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Epi4K Consortium, et al. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1 10(-10) and P = 7.8 10(-12), respectively. Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQS …
Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1 10(-10) and P = 7.8 10( …
From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing.
Indelicato E, Boesch S. Indelicato E, et al. Front Neurol. 2021 Mar 2;12:639994. doi: 10.3389/fneur.2021.639994. eCollection 2021. Front Neurol. 2021. PMID: 33737904 Free PMC article. Review.
Non-polyglutamine CACNA1A variants underlie familial hemiplegic ataxia type 1 (FHM1) and episodic ataxia type 2 (EA2). ...Lately, the spreading of next generation sequencing techniques linked de novo CACNA1A variants to an even broader phenotypic spectrum including …
Non-polyglutamine CACNA1A variants underlie familial hemiplegic ataxia type 1 (FHM1) and episodic ataxia type 2 (EA2). ...Lately, the …
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
Damaj L, Lupien-Meilleur A, Lortie A, Riou É, Ospina LH, Gagnon L, Vanasse C, Rossignol E. Damaj L, et al. Eur J Hum Genet. 2015 Nov;23(11):1505-12. doi: 10.1038/ejhg.2015.21. Epub 2015 Mar 4. Eur J Hum Genet. 2015. PMID: 25735478 Free PMC article.
A minority of patients carrying CACNA1A mutations develops epilepsy. Non-motor symptoms associated with these mutations are often overlooked. ...Sequencing revealed one CACNA1A gene deletion, two deleterious CACNA1A point mutations including one known stop-ga …
A minority of patients carrying CACNA1A mutations develops epilepsy. Non-motor symptoms associated with these mutations are often ove …
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
Long S, Zhou H, Li S, Wang T, Ma Y, Li C, Zhou Y, Zhou S, Wu B, Wang Y. Long S, et al. Front Neurol. 2019 May 14;10:505. doi: 10.3389/fneur.2019.00505. eCollection 2019. Front Neurol. 2019. PMID: 31139143 Free PMC article.
There is still no comprehensive description of the general population regarding clinical features and genetic etiology for co-occurring epilepsy and autism spectrum disorder (ASD) in Chinese children. This study was a retrospective study of children diagnosed …
There is still no comprehensive description of the general population regarding clinical features and genetic etiology for co-occurring epil …
The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.
Kessi M, Chen B, Pang N, Yang L, Peng J, He F, Yin F. Kessi M, et al. Front Mol Neurosci. 2023 Jul 24;16:1222321. doi: 10.3389/fnmol.2023.1222321. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37555011 Free PMC article.
BACKGROUND: Genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders such as global developmental delay (GDD)/intellectual disability (ID), epileptic encephalopathy (EE), and autism spectrum disorder (ASD) are unknown. ...GOF …
BACKGROUND: Genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders such as global developmental delay (G …
NRXN1alpha(+/-) is associated with increased excitability in ASD iPSC-derived neurons.
Avazzadeh S, Quinlan LR, Reilly J, McDonagh K, Jalali A, Wang Y, McInerney V, Krawczyk J, Ding Y, Fitzgerald J, O'Sullivan M, Forman EB, Lynch SA, Ennis S, Feerick N, Reilly R, Li W, Shen X, Yang G, Lu Y, Peeters H, Dockery P, O'Brien T, Shen S, Gallagher L. Avazzadeh S, et al. BMC Neurosci. 2021 Sep 15;22(1):56. doi: 10.1186/s12868-021-00661-0. BMC Neurosci. 2021. PMID: 34525970 Free PMC article.
BACKGROUND: NRXN1 deletions are identified as one of major rare risk factors for autism spectrum disorder (ASD) and other neurodevelopmental disorders. ASD has 30% co-morbidity with epilepsy, and the latter is associated with excessive neuronal firing. …
BACKGROUND: NRXN1 deletions are identified as one of major rare risk factors for autism spectrum disorder (ASD) and oth …
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism.
Gargus JJ. Gargus JJ. Ann N Y Acad Sci. 2009 Jan;1151:133-56. doi: 10.1111/j.1749-6632.2008.03572.x. Ann N Y Acad Sci. 2009. PMID: 19154521 Review.
The gene families and genetic lesions underlying familial hemiplegic migraine, FHM1/CACNA1A, FHM2/ATP1A2, and FHM3/SCN1A, and monogenic mitochondrial migraine syndromes, provide a robust platform from which genes, such as CACNA1C, which encodes the calcium channel mutated …
The gene families and genetic lesions underlying familial hemiplegic migraine, FHM1/CACNA1A, FHM2/ATP1A2, and FHM3/SCN1A, and monogen …
Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders.
Lupien-Meilleur A, Jiang X, Lachance M, Taschereau-Dumouchel V, Gagnon L, Vanasse C, Lacaille JC, Rossignol E. Lupien-Meilleur A, et al. Mol Psychiatry. 2021 Dec;26(12):7225-7246. doi: 10.1038/s41380-021-01175-1. Epub 2021 Jun 14. Mol Psychiatry. 2021. PMID: 34127816
CACNA1A deletions cause epilepsy, ataxia, and a range of neurocognitive deficits, including inattention, impulsivity, intellectual deficiency and autism. ...By contrast, the deletion of Cacna1a in PCs does not impact cortical excitability or behaviour in Emx1
CACNA1A deletions cause epilepsy, ataxia, and a range of neurocognitive deficits, including inattention, impulsivity, intellectual de
De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.
Chen WX, Liu B, Zhou L, Xiong X, Fu J, Huang ZF, Tan T, Tang M, Wang J, Tang YP. Chen WX, et al. Hum Genomics. 2022 Nov 1;16(1):52. doi: 10.1186/s40246-022-00427-7. Hum Genomics. 2022. PMID: 36320054 Free PMC article.
BACKGROUND: Autism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). ...In this study, we tried to develop an analyzing pipeline for de novo mutations and possible pathways related to ID phenotype in ASD. Whole-exome sequenc …
BACKGROUND: Autism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). ...In this study, we t …
22 results