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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Calcium channel, voltage-dependent, T type, alpha 1H subunit''', also known as '''CACNA1H''', is a [[protein]] which in humans is encoded by the ''CACNA1H'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8912| accessdate = }}</ref><ref name="pmid9670923">{{cite journal | vauthors = Cribbs LL, Lee JH, Yang J, Satin J, Zhang Y, Daud A, Barclay J, Williamson MP, Fox M, Rees M, Perez-Reyes E | title = Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family | journal = Circ. Res. | volume = 83 | issue = 1 | pages = 103–9 |date=July 1998 | pmid = 9670923 | doi = 10.1161/01.res.83.1.103| url = http://circres.ahajournals.org/cgi/content/abstract/83/1/103 | issn = }}</ref><ref name="pmid16382099">{{cite journal | vauthors = Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J | title = International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels | journal = Pharmacol. Rev. | volume = 57 | issue = 4 | pages = 411–25 |date=December 2005 | pmid = 16382099 | doi = 10.1124/pr.57.4.5 | url = }}</ref>
| update_page = yes
 
| require_manual_inspection = no
== Function ==
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Calcium channel, voltage-dependent, T type, alpha 1H subunit
| HGNCid = 1395
| Symbol = CACNA1H
| AltSymbols =; CACNA1HB; Cav3.2; FLJ90484
| OMIM = 607904
| ECnumber =
| Homologene = 56913
| MGIid = 1928842
| GeneAtlas_image1 = PBB_GE_CACNA1H_205845_at_tn.png
| Function = {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0008332 |text = low voltage-gated calcium channel activity}}
| Component = {{GNF_GO|id=GO:0005891 |text = voltage-gated calcium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006816 |text = calcium ion transport}} {{GNF_GO|id=GO:0006936 |text = muscle contraction}} {{GNF_GO|id=GO:0007517 |text = muscle development}} {{GNF_GO|id=GO:0007520 |text = myoblast fusion}} {{GNF_GO|id=GO:0008016 |text = regulation of heart contraction}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8912
    | Hs_Ensembl = ENSG00000196557
    | Hs_RefseqProtein = NP_001005407
    | Hs_RefseqmRNA = NM_001005407
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 16
    | Hs_GenLoc_start = 1143739
    | Hs_GenLoc_end = 1211772
    | Hs_Uniprot = O95180
    | Mm_EntrezGene = 58226
    | Mm_Ensembl = ENSMUSG00000024112
    | Mm_RefseqmRNA = NM_021415
    | Mm_RefseqProtein = NP_067390
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 25101887
    | Mm_GenLoc_end = 25161385
    | Mm_Uniprot = Q6PE92
  }}
}}
{{CMG}}
__NOTOC__


This gene encodes Ca<sub>v</sub>3.2, a T-type member of the α<sub>1</sub> subunit family, a protein in the [[voltage-dependent calcium channel]] complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of α<sub>1</sub>, α<sub>2</sub>δ, β, and γ subunits in a 1:1:1:1 ratio. The α<sub>1</sub> subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple [[protein isoform|isoform]]s of each of the proteins in the complex, either encoded by different genes or the result of [[alternative splicing]] of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here.<ref name="entrez"/>


==Overview==
== Clinical significance ==


'''Calcium channel, voltage-dependent, T type, alpha 1H subunit''', also known as '''CACNA1H''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8912| accessdate = }}</ref>
Studies suggest certain mutations in this gene lead to [[childhood absence epilepsy]] (CAE).<ref name="pmid12891677">{{cite journal | vauthors = Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X | title = Association between genetic variation of CACNA1H and childhood absence epilepsy | journal = Ann. Neurol. | volume = 54 | issue = 2 | pages = 239–43 |date=August 2003 | pmid = 12891677 | doi = 10.1002/ana.10607 | url =  }}</ref> Variants of Ca<sub>v</sub>3.2 with increased channel activity contribute to susceptibility to [[idiopathic generalized epilepsy]] (IGE), but are not sufficient to induce epilepsy on their own.<ref name="pmid17696120">{{cite journal | vauthors = Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW | title = Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants | journal = Ann. Neurol. | volume = 62 | issue = 6 | pages = 560–8 |date=December 2007 | pmid = 17696120 | doi = 10.1002/ana.21169 | url =  }}</ref> The SFARIgene database lists CACNA1H with an [[autism]] score of 2.1, indicating a candidate causal relationship with [[autism]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE).<ref name="entrez">{{cite web | title = Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8912| accessdate = }}</ref>
}}
==See also==
==See also==
* [[T-type calcium channel]]
* [[T-type calcium channel]]
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==References==
==References==
{{reflist}}
{{reflist}}
==External links==
* {{UCSC gene info|CACNA1H}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Crunelli V, Tóth TI, Cope DW, ''et al.'' |title=The 'window' T-type calcium current in brain dynamics of different behavioural states. |journal=J. Physiol. (Lond.) |volume=562 |issue= Pt 1 |pages= 121-9 |year= 2005 |pmid= 15498803 |doi= 10.1113/jphysiol.2004.076273 }}
*{{cite journal  | vauthors=Crunelli V, Tóth TI, Cope DW |title=The 'window' T-type calcium current in brain dynamics of different behavioural states. |journal=J. Physiol. |volume=562 |issue= Pt 1 |pages= 121–9 |year= 2005 |pmid= 15498803 |doi= 10.1113/jphysiol.2004.076273 | pmc=1665496 |display-authors=etal}}
*{{cite journal  | author=Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J |title=International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 411-25 |year= 2006 |pmid= 16382099 |doi= 10.1124/pr.57.4.5 }}
*{{cite journal  | vauthors=Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J |title=International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 411–25 |year= 2006 |pmid= 16382099 |doi= 10.1124/pr.57.4.5 }}
*{{cite journal  | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{cite journal  | vauthors=Andersson B, Wentland MA, Ricafrente JY |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 |display-authors=etal}}
*{{cite journal  | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi=  }}
*{{cite journal  | vauthors=Yu W, Andersson B, Worley KC |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=  10.1101/gr.7.4.353| pmc=139146  |display-authors=etal}}
*{{cite journal  | author=Cribbs LL, Lee JH, Yang J, ''et al.'' |title=Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. |journal=Circ. Res. |volume=83 |issue= 1 |pages= 103-9 |year= 1998 |pmid= 9670923 |doi=  }}
*{{cite journal  | vauthors=Cribbs LL, Lee JH, Yang J |title=Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. |journal=Circ. Res. |volume=83 |issue= 1 |pages= 103–9 |year= 1998 |pmid= 9670923 |doi=  10.1161/01.res.83.1.103|display-authors=etal}}
*{{cite journal  | author=Williams ME, Washburn MS, Hans M, ''et al.'' |title=Structure and functional characterization of a novel human low-voltage activated calcium channel. |journal=J. Neurochem. |volume=72 |issue= 2 |pages= 791-9 |year= 1999 |pmid= 9930755 |doi=  }}
*{{cite journal  | vauthors=Williams ME, Washburn MS, Hans M |title=Structure and functional characterization of a novel human low-voltage activated calcium channel. |journal=J. Neurochem. |volume=72 |issue= 2 |pages= 791–9 |year= 1999 |pmid= 9930755 |doi=10.1046/j.1471-4159.1999.0720791.x |display-authors=etal}}
*{{cite journal  | author=Perez-Reyes E, Lee JH, Cribbs LL |title=Molecular characterization of two members of the T-type calcium channel family. |journal=Ann. N. Y. Acad. Sci. |volume=868 |issue=  |pages= 131-43 |year= 1999 |pmid= 10414291 |doi= }}
*{{cite journal  | vauthors=Perez-Reyes E, Lee JH, Cribbs LL |title=Molecular characterization of two members of the T-type calcium channel family. |journal=Ann. N. Y. Acad. Sci. |volume=868 |issue=  |pages= 131–43 |year= 1999 |pmid= 10414291 |doi=10.1111/j.1749-6632.1999.tb11283.x  }}
*{{cite journal  | author=Bijlenga P, Liu JH, Espinos E, ''et al.'' |title=T-type alpha 1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 13 |pages= 7627-32 |year= 2000 |pmid= 10861024 |doi=  }}
*{{cite journal  | vauthors=Bijlenga P, Liu JH, Espinos E |title=T-type alpha 1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 13 |pages= 7627–32 |year= 2000 |pmid= 10861024 |doi=10.1073/pnas.97.13.7627 | pmc=16596  |display-authors=etal}}
*{{cite journal  | author=Daniels RJ, Peden JF, Lloyd C, ''et al.'' |title=Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. |journal=Hum. Mol. Genet. |volume=10 |issue= 4 |pages= 339-52 |year= 2001 |pmid= 11157797 |doi=  }}
*{{cite journal  | vauthors=Daniels RJ, Peden JF, Lloyd C |title=Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. |journal=Hum. Mol. Genet. |volume=10 |issue= 4 |pages= 339–52 |year= 2001 |pmid= 11157797 |doi=10.1093/hmg/10.4.339 |display-authors=etal}}
*{{cite journal  | author=Jagannathan S, Punt EL, Gu Y, ''et al.'' |title=Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms. |journal=J. Biol. Chem. |volume=277 |issue= 10 |pages= 8449-56 |year= 2002 |pmid= 11751928 |doi= 10.1074/jbc.M105345200 }}
*{{cite journal  | vauthors=Jagannathan S, Punt EL, Gu Y |title=Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms. |journal=J. Biol. Chem. |volume=277 |issue= 10 |pages= 8449–56 |year= 2002 |pmid= 11751928 |doi= 10.1074/jbc.M105345200 |display-authors=etal}}
*{{cite journal  | author=Mariot P, Vanoverberghe K, Lalevee N, ''et al.'' |title=Overexpression of an alpha 1H (Cav3.2) T-type calcium channel during neuroendocrine differentiation of human prostate cancer cells. |journal=J. Biol. Chem. |volume=277 |issue= 13 |pages= 10824-33 |year= 2002 |pmid= 11799114 |doi= 10.1074/jbc.M108754200 }}
*{{cite journal  | vauthors=Mariot P, Vanoverberghe K, Lalevee N |title=Overexpression of an alpha 1H (Cav3.2) T-type calcium channel during neuroendocrine differentiation of human prostate cancer cells. |journal=J. Biol. Chem. |volume=277 |issue= 13 |pages= 10824–33 |year= 2002 |pmid= 11799114 |doi= 10.1074/jbc.M108754200 |display-authors=etal}}
*{{cite journal  | author=Chemin J, Monteil A, Perez-Reyes E, ''et al.'' |title=Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability. |journal=J. Physiol. (Lond.) |volume=540 |issue= Pt 1 |pages= 3-14 |year= 2002 |pmid= 11927664 |doi=  }}
*{{cite journal  | vauthors=Chemin J, Monteil A, Perez-Reyes E |title=Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability. |journal=J. Physiol. |volume=540 |issue= Pt 1 |pages= 3–14 |year= 2002 |pmid= 11927664 |doi=10.1113/jphysiol.2001.013269 | pmc=2290209  |display-authors=etal}}
*{{cite journal  | author=Shin JB, Martinez-Salgado C, Heppenstall PA, Lewin GR |title=A T-type calcium channel required for normal function of a mammalian mechanoreceptor. |journal=Nat. Neurosci. |volume=6 |issue= 7 |pages= 724-30 |year= 2003 |pmid= 12808460 |doi= 10.1038/nn1076 }}
*{{cite journal  | vauthors=Shin JB, Martinez-Salgado C, Heppenstall PA, Lewin GR |title=A T-type calcium channel required for normal function of a mammalian mechanoreceptor. |journal=Nat. Neurosci. |volume=6 |issue= 7 |pages= 724–30 |year= 2003 |pmid= 12808460 |doi= 10.1038/nn1076 }}
*{{cite journal  | author=Wolfe JT, Wang H, Howard J, ''et al.'' |title=T-type calcium channel regulation by specific G-protein betagamma subunits. |journal=Nature |volume=424 |issue= 6945 |pages= 209-13 |year= 2003 |pmid= 12853961 |doi= 10.1038/nature01772 }}
*{{cite journal  | vauthors=Wolfe JT, Wang H, Howard J |title=T-type calcium channel regulation by specific G-protein betagamma subunits. |journal=Nature |volume=424 |issue= 6945 |pages= 209–13 |year= 2003 |pmid= 12853961 |doi= 10.1038/nature01772 |display-authors=etal}}
*{{cite journal  | author=Kaku T, Lee TS, Arita M, ''et al.'' |title=The gating and conductance properties of Cav3.2 low-voltage-activated T-type calcium channels. |journal=Jpn. J. Physiol. |volume=53 |issue= 3 |pages= 165-72 |year= 2004 |pmid= 14529577 |doi=  }}
*{{cite journal  | vauthors=Kaku T, Lee TS, Arita M |title=The gating and conductance properties of Cav3.2 low-voltage-activated T-type calcium channels. |journal=Jpn. J. Physiol. |volume=53 |issue= 3 |pages= 165–72 |year= 2004 |pmid= 14529577 |doi=10.2170/jjphysiol.53.165 |display-authors=etal}}
*{{cite journal  | author=Welsby PJ, Wang H, Wolfe JT, ''et al.'' |title=A mechanism for the direct regulation of T-type calcium channels by Ca2+/calmodulin-dependent kinase II. |journal=J. Neurosci. |volume=23 |issue= 31 |pages= 10116-21 |year= 2003 |pmid= 14602827 |doi=  }}
*{{cite journal  | vauthors=Welsby PJ, Wang H, Wolfe JT |title=A mechanism for the direct regulation of T-type calcium channels by Ca2+/calmodulin-dependent kinase II. |journal=J. Neurosci. |volume=23 |issue= 31 |pages= 10116–21 |year= 2003 |pmid= 14602827 |doi=  |display-authors=etal}}
*{{cite journal  | author=Chen CC, Lamping KG, Nuno DW, ''et al.'' |title=Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channels. |journal=Science |volume=302 |issue= 5649 |pages= 1416-8 |year= 2003 |pmid= 14631046 |doi= 10.1126/science.1089268 }}
*{{cite journal  | vauthors=Chen CC, Lamping KG, Nuno DW |title=Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channels. |journal=Science |volume=302 |issue= 5649 |pages= 1416–8 |year= 2003 |pmid= 14631046 |doi= 10.1126/science.1089268 |display-authors=etal}}
*{{cite journal  | author=Khosravani H, Altier C, Simms B, ''et al.'' |title=Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. |journal=J. Biol. Chem. |volume=279 |issue= 11 |pages= 9681-4 |year= 2004 |pmid= 14729682 |doi= 10.1074/jbc.C400006200 }}
*{{cite journal  | vauthors=Khosravani H, Altier C, Simms B |title=Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. |journal=J. Biol. Chem. |volume=279 |issue= 11 |pages= 9681–4 |year= 2004 |pmid= 14729682 |doi= 10.1074/jbc.C400006200 |display-authors=etal}}
*{{cite journal  | author=Martin J, Han C, Gordon LA, ''et al.'' |title=The sequence and analysis of duplication-rich human chromosome 16. |journal=Nature |volume=432 |issue= 7020 |pages= 988-94 |year= 2005 |pmid= 15616553 |doi= 10.1038/nature03187 }}
*{{cite journal  | vauthors=Martin J, Han C, Gordon LA |title=The sequence and analysis of duplication-rich human chromosome 16. |journal=Nature |volume=432 |issue= 7020 |pages= 988–94 |year= 2005 |pmid= 15616553 |doi= 10.1038/nature03187 |display-authors=etal}}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 09:08, 30 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Calcium channel, voltage-dependent, T type, alpha 1H subunit, also known as CACNA1H, is a protein which in humans is encoded by the CACNA1H gene.[1][2][3]

Function

This gene encodes Cav3.2, a T-type member of the α1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of α1, α2δ, β, and γ subunits in a 1:1:1:1 ratio. The α1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here.[1]

Clinical significance

Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE).[4] Variants of Cav3.2 with increased channel activity contribute to susceptibility to idiopathic generalized epilepsy (IGE), but are not sufficient to induce epilepsy on their own.[5] The SFARIgene database lists CACNA1H with an autism score of 2.1, indicating a candidate causal relationship with autism.

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit".
  2. ↑ Cribbs LL, Lee JH, Yang J, Satin J, Zhang Y, Daud A, Barclay J, Williamson MP, Fox M, Rees M, Perez-Reyes E (July 1998). "Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family". Circ. Res. 83 (1): 103–9. doi:10.1161/01.res.83.1.103. PMID 9670923.
  3. ↑ Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (December 2005). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels". Pharmacol. Rev. 57 (4): 411–25. doi:10.1124/pr.57.4.5. PMID 16382099.
  4. ↑ Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X (August 2003). "Association between genetic variation of CACNA1H and childhood absence epilepsy". Ann. Neurol. 54 (2): 239–43. doi:10.1002/ana.10607. PMID 12891677.
  5. ↑ Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW (December 2007). "Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants". Ann. Neurol. 62 (6): 560–8. doi:10.1002/ana.21169. PMID 17696120.

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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