The neural function of cystatin B, recently implicated in EPM1, is unclear but may lead to new insights into the mechanisms of epilepsy.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Pennachio, L.A. et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271, 1731–1733 (1996).
Turk, V. & Bode, W. The cystatins: Protein inhibitors of cysteine proteinases. FEHS Lett. 285, 213–219 (1991).
Steinlein, O.K. et al. A missense mutation in the neuronal nicotinic acetylcholine receptor u4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet. 11, 201–203 (1995).
Beck, C. et al. A nonsense mutation in the ot-4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBN1). Neurobiol Dis. 1, 95–99 (1994).
Shiang, R. et al. Mutations in the ral subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia. Nature Genet. 5, 351–358 (1993).
Ryan, S.G. et al. A missense mutation in the gene encoding the al subunit of the inhibitory glycine receptor in the spasmodic mouse. Nature Genet. 7, 131–135 (1994).
Rosahl, T.W. et al. Essential functions of synapsins I and II in synaptic vesicle regulation. Nature 375, 488–493 (1995).
Li, L. et al. Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice. Proc. Natl. Acad. Sci. USA 92, 9235–9239 (1995).
Ferreira, A. et al. Suppression of synapsin II inhibits the formation and maintenance of synapses in hippocampal culture. Proc. Natl. Acad. Sci. USA 92, 9225–9229 (1995).
Pieribone, V.A. Distinct pools of synaptic vesicles in neurotransmitter release. Nature 375, 493–497 (1995).
Butler, L.S. et al. Limbic epilepsy in transgenic mice carrying a Ca2+calmodulin-dependent kinase II a-subunit mutation. Proc. Natl. Acad. Sci. USA 92, 6852–6855 (1995).
Waymire, K.G. et al. Mice lacking tissue nonspecific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nature Genet. 11, 45–51 (1995).
Ryan, S.G. Partial epilepsy: Chinks in the armour. Nature Genet. 10, 4–6 (1995).
Zara, F. et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum. MoJ. Genet. 4, 1201–1207 (1995).
Steinlein, O. et al. Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor a4 subunit (CHKNA4) to human chromosome 20ql3.2-ql3.3. Genomics 22, 493–495 (1994).
Tahvanainen, E. et al. The gene for a reces-sively inherited human childhood progressive epilepsy with mental retardation maps to the short arm of chromosome 8. Proc. Natl. Acad. Sci. USA 91, 7267–7270(1994).
International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell 82, 949–957 (1995).
Serratosa, J.M. et al. The gene for progressive myoclonus epilepsy of the I.afora type maps to chromosome 6q. Hum. Mol. Genet. 4, 1657–1663 (1995).
Eksioglu, Y.Z. et al. Periventricular hetero-topia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 16, 77–87 (1996).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Allen, K., Walsh, C. Shaking down new epilepsy genes. Nat Med 2, 516–518 (1996). https://doi.org/10.1038/nm0596-516
Issue Date:
DOI: https://doi.org/10.1038/nm0596-516
