The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia
Open accessAbstract
Inactivation of the beta4 subunit of the calcium channel in the mouse neurological mutant lethargic results in a complex neurological disorder that includes absence epilepsy and ataxia. To determine the role of the calcium-channel beta4-subunit gene CACNB4 on chromosome 2q22-23 in related human disorders, we screened for mutations in small pedigrees with familial epilepsy and ataxia. The premature-termination mutation R482X was identified in a patient with juvenile myoclonic epilepsy. The R482X protein lacks the 38 C-terminal amino acids containing part of an interaction domain for the alpha1 subunit. The missense mutation C104F was identified both in a German family with generalized epilepsy and praxis-induced seizures and in a French Canadian family with episodic ataxia. These coding mutations were not detected in 255 unaffected control individuals (510 chromosomes), and they may be considered candidate disease mutations. The results of functional tests of the truncated protein R482X in Xenopus laevis oocytes demonstrated a small decrease in the fast time constant for inactivation of the cotransfected alpha1 subunit. Further studies will be required to evaluate the in vivo consequences of these mutations. We also describe eight noncoding single-nucleotide substitutions, two of which are present at polymorphic frequency, and a previously unrecognized first intron of CACNB4 that interrupts exon 1 at codon 21.
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Cites
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
Singh, N. A., Charlier, C., Stauffer, D., DuPont, B. R., Leach, R. J., Melis, R., Ronen, G. M., Bjerre, I., Quattlebaum, T., Murphy, J. V., et al. (1998) · Nature Genetics · doi:10.1038/ng0198-25 · Cited by 1,199
A Potassium Channel Mutation in Neonatal Human Epilepsy
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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Escayg, A., MacDonald, B. T., Meisler, M. H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., et al. (2000) · Nature Genetics · doi:10.1038/74159 · Cited by 996
Self-citationRaman, I. M., Sprunger, L. K., Meisler, M. H., & Bean, B. P. (1997) · Neuron · doi:10.1016/s0896-6273(00)80969-1 · Cited by 390
Self-citationSprunger, L. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.3.471 · Cited by 72
Cited by
Channelopathies as a genetic cause of epilepsy
Mulley, J. C., Scheffer, I. E., Petrou, S., & Berkovic, S. F. (2003) · Current Opinion in Neurology · doi:10.1097/00019052-200304000-00009 · Cited by 214
Kullmann, D. M. (2002) · Brain · doi:10.1093/brain/awf130 · Cited by 168
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia
Schwarz, N., Hahn, A., Bast, T., Müller, S., Löffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., et al. (2016) · Journal of Neurology · doi:10.1007/s00415-015-7984-0 · Cited by 95
Gstir, R., Schafferer, S., Scheideler, M., Misslinger, M., Griehl, M., Daschil, N., Humpel, C., Obermair, G. J., Schmuckermair, C., Striessnig, J., et al. (2014) · RNA · doi:10.1261/rna.047225.114 · Cited by 36
Blair, M. A., Abou-Khalil, B., Crunk, A., Haines, J. L., & Hedera, P. (2011) · Epilepsia · doi:10.1111/j.1528-1167.2011.03059.x · Cited by 5
Metadata
- Authors
- Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., & Meisler, M. H.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-05
- Volume
- 66
- Issue
- 5
- Pages
- 1531-1539
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2069941412
- Cited by
- 423
- References
- 7
- FWCI
- 7.32
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., & Meisler, M. H. (2000). Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia. The American Journal of Human Genetics. https://doi.org/10.1086/302909
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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