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Identification
HMDB Protein ID HMDBP02718
Secondary Accession Numbers
  • 8222
Name Extracellular calcium-sensing receptor
Synonyms
  1. CaSR
  2. PCaR1
  3. Parathyroid cell calcium-sensing receptor
Gene Name CASR
Protein Type Unknown
Biological Properties
General Function Involved in G-protein coupled receptor activity
Specific Function Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G- protein that activates a phosphatidylinositol-calcium second messenger system
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
receptor activity
transmembrane receptor activity
molecular transducer activity
signal transducer activity
g-protein coupled receptor activity
Process
response to stimulus
calcium-mediated signaling
detection of chemical stimulus
detection of calcium ion
biological regulation
regulation of biological process
response to chemical stimulus
regulation of cellular process
signal transduction
signaling
signaling pathway
cell surface receptor linked signaling pathway
g-protein coupled receptor protein signaling pathway
intracellular signal transduction
second-messenger-mediated signaling
Cellular Location
  1. Cell membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:3
Locus 3q13
SNPs CASR
Gene Sequence
>3237 bp
ATGGCATTTTATAGCTGCTGCTGGGTCCTCTTGGCACTCACCTGGCACACCTCTGCCTAC
GGGCCAGACCAGCGAGCCCAAAAGAAGGGGGACATTATCCTTGGGGGGCTCTTTCCTATT
CATTTTGGAGTAGCAGCTAAAGATCAAGATCTCAAATCAAGGCCGGAGTCTGTGGAATGT
ATCAGGTATAATTTCCGTGGGTTTCGCTGGTTACAGGCTATGATATTTGCCATAGAGGAG
ATAAACAGCAGCCCAGCCCTTCTTCCCAACTTGACGCTGGGATACAGGATATTTGACACT
TGCAACACCGTTTCTAAGGCCTTGGAAGCCACCCTGAGTTTTGTTGCTCAAAACAAAATT
GATTCTTTGAACCTTGATGAGTTCTGCAACTGCTCAGAGCACATTCCCTCTACGATTGCT
GTGGTGGGAGCAACTGGCTCAGGCGTCTCCACGGCAGTGGCAAATCTGCTGGGGCTCTTC
TACATTCCCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTC
AAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATC
ATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGG
CCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGT
GAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAA
AATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATC
AAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCC
AGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTC
GCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGG
AAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTC
CAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGT
GGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAAC
ATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTG
TACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGG
AGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTC
CTGAAGCACCTACGGCATCTAAACTTTACAAACAATATGGGGGAGCAGGTGACCTTTGAT
GAGTGTGGTGACCTGGTGGGGAACTATTCCATCATCAACTGGCACCTCTCCCCAGAGGAT
GGCTCCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCCAAGAAGGGAGAAAGA
CTCTTCATCAACGAGGAGAAAATCCTGTGGAGTGGGTTCTCCAGGGAGGTGCCCTTCTCC
AACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACC
TGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGATGCCAGT
GCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCC
AAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCC
GTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACA
CCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGC
TGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGC
CAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAAC
CGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGG
CTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTG
ATCTGGCTCTACACCGCGCCCCCCTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATC
ATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACC
TGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAAC
TTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCC
TTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCC
ATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATT
CTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCT
TTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGC
AGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGC
GAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAG
CAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCC
AGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGAT
GAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCC
CAGAAAAGCAGCGATACGCTGACCCGACACCAGCCATTACTCCCGCTGCAGTGCGGGGAA
ACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAG
CGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAG
AGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAA
Protein Properties
Number of Residues 1078
Molecular Weight 120672.4
Theoretical pI 5.82
Pfam Domain Function
Signals
  • 1-19
Transmembrane Regions
  • 613-635
  • 650-670
  • 682-700
  • 725-745
  • 770-792
  • 806-828
  • 837-862
Protein Sequence
>Extracellular calcium-sensing receptor
MAFYSCCWVLLALTWHTSAYGPDQRAQKKGDIILGGLFPIHFGVAAKDQDLKSRPESVEC
IRYNFRGFRWLQAMIFAIEEINSSPALLPNLTLGYRIFDTCNTVSKALEATLSFVAQNKI
DSLNLDEFCNCSEHIPSTIAVVGATGSGVSTAVANLLGLFYIPQVSYASSSRLLSNKNQF
KSFLRTIPNDEHQATAMADIIEYFRWNWVGTIAADDDYGRPGIEKFREEAEERDICIDFS
ELISQYSDEEEIQHVVEVIQNSTAKVIVVFSSGPDLEPLIKEIVRRNITGKIWLASEAWA
SSSLIAMPQYFHVVGGTIGFALKAGQIPGFREFLKKVHPRKSVHNGFAKEFWEETFNCHL
QEGAKGPLPVDTFLRGHEESGDRFSNSSTAFRPLCTGDENISSVETPYIDYTHLRISYNV
YLAVYSIAHALQDIYTCLPGRGLFTNGSCADIKKVEAWQVLKHLRHLNFTNNMGEQVTFD
ECGDLVGNYSIINWHLSPEDGSIVFKEVGYYNVYAKKGERLFINEEKILWSGFSREVPFS
NCSRDCLAGTRKGIIEGEPTCCFECVECPDGEYSDETDASACNKCPDDFWSNENHTSCIA
KEIEFLSWTEPFGIALTLFAVLGIFLTAFVLGVFIKFRNTPIVKATNRELSYLLLFSLLC
CFSSSLFFIGEPQDWTCRLRQPAFGISFVLCISCILVKTNRVLLVFEAKIPTSFHRKWWG
LNLQFLLVFLCTFMQIVICVIWLYTAPPSSYRNQELEDEIIFITCHEGSLMALGFLIGYT
CLLAAICFFFAFKSRKLPENFNEAKFITFSMLIFFIVWISFIPAYASTYGKFVSAVEVIA
ILAASFGLLACIFFNKIYIILFKPSRNTIEEVRCSTAAHAFKVAARATLRRSNVSRKRSS
SLGGSTGSTPSSSISSKSNSEDPFPQPERQKQQQPLALTQQEQQQQPLTLPQQQRSQQQP
RCKQKVIFGSGTVTFSLSFDEPQKNAMAHRNSTHQNSLEAQKSSDTLTRHQPLLPLQCGE
TDLDLTVQETGLQGPVGGDQRPEVEDPEELSPALVVSSSQSFVISGGGSTVTENVVNS
GenBank ID Protein 85397872
UniProtKB/Swiss-Prot ID P41180
UniProtKB/Swiss-Prot Entry Name CASR_HUMAN
PDB IDs Not Available
GenBank Gene ID BC104999
GeneCard ID CASR
GenAtlas ID CASR
HGNC ID HGNC:1514
References
General References
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  2. Garrett JE, Capuano IV, Hammerland LG, Hung BC, Brown EM, Hebert SC, Nemeth EF, Fuller F: Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem. 1995 May 26;270(21):12919-25. [PubMed:7759551 ]
  3. Aida K, Koishi S, Tawata M, Onaya T: Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney. Biochem Biophys Res Commun. 1995 Sep 14;214(2):524-9. [PubMed:7677761 ]
  4. Freichel M, Zink-Lorenz A, Holloschi A, Hafner M, Flockerzi V, Raue F: Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion. Endocrinology. 1996 Sep;137(9):3842-8. [PubMed:8756555 ]
  5. Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T: Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J Clin Endocrinol Metab. 1995 Sep;80(9):2594-8. [PubMed:7673400 ]
  6. Bikle DD, Ratnam A, Mauro T, Harris J, Pillai S: Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor. J Clin Invest. 1996 Feb 15;97(4):1085-93. [PubMed:8613532 ]
  7. Huang Y, Niwa J, Sobue G, Breitwieser GE: Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin. J Biol Chem. 2006 Apr 28;281(17):11610-7. Epub 2006 Mar 2. [PubMed:16513638 ]
  8. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993 Dec 31;75(7):1297-303. [PubMed:7916660 ]
  9. Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG: Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet. 1994 Nov;8(3):303-7. [PubMed:7874174 ]
  10. Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG, et al.: Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet. 1995 May;56(5):1075-9. [PubMed:7726161 ]
  11. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al.: Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest. 1995 Dec;96(6):2683-92. [PubMed:8675635 ]
  12. Lovlie R, Eiken HG, Sorheim JI, Boman H: The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. Hum Genet. 1996 Aug;98(2):129-33. [PubMed:8698326 ]
  13. Baron J, Winer KK, Yanovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB Jr: Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet. 1996 May;5(5):601-6. [PubMed:8733126 ]
  14. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med. 1996 Oct 10;335(15):1115-22. [PubMed:8813042 ]
  15. Ward BK, Stuckey BG, Gutteridge DH, Laing NG, Pullan PT, Ratajczak T: A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. Hum Mutat. 1997;10(3):233-5. [PubMed:9298824 ]
  16. De Luca F, Ray K, Mancilla EE, Fan GF, Winer KK, Gore P, Spiegel AM, Baron J: Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor. J Clin Endocrinol Metab. 1997 Aug;82(8):2710-5. [PubMed:9253358 ]
  17. Kobayashi M, Tanaka H, Tsuzuki K, Tsuyuki M, Igaki H, Ichinose Y, Aya K, Nishioka N, Seino Y: Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. J Clin Endocrinol Metab. 1997 Aug;82(8):2716-9. [PubMed:9253359 ]
  18. Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T: Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J Clin Endocrinol Metab. 1998 Jul;83(7):2497-502. [PubMed:9661634 ]
  19. Okazaki R, Chikatsu N, Nakatsu M, Takeuchi Y, Ajima M, Miki J, Fujita T, Arai M, Totsuka Y, Tanaka K, Fukumoto S: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 1999 Jan;84(1):363-6. [PubMed:9920108 ]
  20. Stock JL, Brown RS, Baron J, Coderre JA, Mancilla E, De Luca F, Ray K, Mericq MV: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. J Clin Endocrinol Metab. 1999 Sep;84(9):3036-40. [PubMed:10487661 ]
  21. Cole DE, Peltekova VD, Rubin LA, Hawker GA, Vieth R, Liew CC, Hwang DM, Evrovski J, Hendy GN: A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations. Lancet. 1999 Jan 9;353(9147):112-5. [PubMed:10023897 ]
  22. Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J: Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab. 2000 May;85(5):2042-7. [PubMed:10843194 ]
  23. Nakayama T, Minato M, Nakagawa M, Soma M, Tobe H, Aoi N, Kosuge K, Sato M, Ozawa Y, Kanmatsuse K, Kokubun S: A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. Endocrine. 2001 Aug;15(3):277-82. [PubMed:11762699 ]
  24. Cole DE, Vieth R, Trang HM, Wong BY, Hendy GN, Rubin LA: Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. Mol Genet Metab. 2001 Feb;72(2):168-74. [PubMed:11161843 ]
  25. Nagase T, Murakami T, Tsukada T, Kitamura R, Chikatsu N, Takeo H, Takata N, Yasuda H, Fukumoto S, Tanaka Y, Nagata N, Yamaguchi K, Akatsu T, Yamamoto M: A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor. J Clin Endocrinol Metab. 2002 Jun;87(6):2681-7. [PubMed:12050233 ]
  26. Sato K, Hasegawa Y, Nakae J, Nanao K, Takahashi I, Tajima T, Shinohara N, Fujieda K: Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. J Clin Endocrinol Metab. 2002 Jul;87(7):3068-73. [PubMed:12107202 ]
  27. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T: Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet. 2002 Aug 31;360(9334):692-4. [PubMed:12241879 ]
  28. Tan YM, Cardinal J, Franks AH, Mun HC, Lewis N, Harris LB, Prins JB, Conigrave AD: Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. J Clin Endocrinol Metab. 2003 Feb;88(2):605-10. [PubMed:12574188 ]
  29. Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C, Cole DE: Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. J Clin Endocrinol Metab. 2003 Aug;88(8):3674-81. [PubMed:12915654 ]
  30. Scillitani A, Guarnieri V, De Geronimo S, Muscarella LA, Battista C, D'Agruma L, Bertoldo F, Florio C, Minisola S, Hendy GN, Cole DE: Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. J Clin Endocrinol Metab. 2004 Nov;89(11):5634-8. [PubMed:15531522 ]
  31. Miyashiro K, Kunii I, Manna TD, de Menezes Filho HC, Damiani D, Setian N, Hauache OM: Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. J Clin Endocrinol Metab. 2004 Dec;89(12):5936-41. [PubMed:15579740 ]
  32. Uckun-Kitapci A, Underwood LE, Zhang J, Moats-Staats B: A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. Am J Med Genet A. 2005 Jan 15;132A(2):125-9. [PubMed:15551332 ]
  33. Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN: Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. Hum Mol Genet. 2005 Jun 15;14(12):1679-90. Epub 2005 May 6. [PubMed:15879434 ]
  34. Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN: Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. J Clin Endocrinol Metab. 2005 Feb;90(2):864-70. Epub 2004 Nov 30. [PubMed:15572418 ]
  35. Leech C, Lohse P, Stanojevic V, Lechner A, Goke B, Spitzweg C: Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor. Biochem Biophys Res Commun. 2006 Apr 14;342(3):996-1002. [PubMed:16598859 ]
  36. Mittelman SD, Hendy GN, Fefferman RA, Canaff L, Mosesova I, Cole DE, Burkett L, Geffner ME: A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. J Clin Endocrinol Metab. 2006 Jul;91(7):2474-9. Epub 2006 Apr 11. [PubMed:16608894 ]
  37. Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN: Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status. J Clin Endocrinol Metab. 2007 Jul;92(7):2616-23. Epub 2007 May 1. [PubMed:17473068 ]
  38. Nissen PH, Christensen SE, Heickendorff L, Brixen K, Mosekilde L: Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. J Clin Endocrinol Metab. 2007 Nov;92(11):4373-9. Epub 2007 Aug 14. [PubMed:17698911 ]
  39. Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A: An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol. 2008 Aug;64(2):158-67. doi: 10.1002/ana.21428. [PubMed:18756473 ]