Gene Review:
EFMR - epilepsy, female restricted, with mental...
Homo sapiens
This record was replaced with 57526.
Lafrenière,
Rochefort,
Chrétien,
Rommens,
Cochius,
Kälviäinen,
Nousiainen,
Patry,
Farrell,
Söderfeldt,
Federico,
Hale,
Cossio,
Sørensen,
Pouliot,
Kmiec,
Uldall,
Janszky,
Pranzatelli,
Andermann,
Andermann,
Rouleau,
Koyama,
Ikegaya,
Baumgartner,
Wheless,
Kulkarni,
Northrup,
Au,
Smith,
Brookshire,
Wiebe,
Blume,
Girvin,
Eliasziw,
Perez-Reyes,
Abrous,
Koehl,
Le Moal,
Ryan,
Chance,
Zou,
Spinner,
Golden,
Smietana,
Seal,
Amara,
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- Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Wallace, R.H., Wang, D.W., Singh, R., Scheffer, I.E., George, A.L., Phillips, H.A., Saar, K., Reis, A., Johnson, E.W., Sutherland, G.R., Berkovic, S.F., Mulley, J.C. Nat. Genet. (1998)
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- Voltage-gated calcium channels and idiopathic generalized epilepsies. Khosravani, H., Zamponi, G.W. Physiol. Rev. (2006)
- Molecular physiology of low-voltage-activated t-type calcium channels. Perez-Reyes, E. Physiol. Rev. (2003)
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- Autoantibodies to glutamic acid decarboxylase in a patient with stiff-man syndrome, epilepsy, and type I diabetes mellitus. Solimena, M., Folli, F., Denis-Donini, S., Comi, G.C., Pozza, G., De Camilli, P., Vicari, A.M. N. Engl. J. Med. (1988)
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- Localization of the gene for Cowden disease to chromosome 10q22-23. Nelen, M.R., Padberg, G.W., Peeters, E.A., Lin, A.Y., van den Helm, B., Frants, R.R., Coulon, V., Goldstein, A.M., van Reen, M.M., Easton, D.F., Eeles, R.A., Hodgsen, S., Mulvihill, J.J., Murday, V.A., Tucker, M.A., Mariman, E.C., Starink, T.M., Ponder, B.A., Ropers, H.H., Kremer, H., Longy, M., Eng, C. Nat. Genet. (1996)
- Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan, E.M., Young, E.J., Ianzano, L., Munteanu, I., Zhao, X., Christopoulos, C.C., Avanzini, G., Elia, M., Ackerley, C.A., Jovic, N.J., Bohlega, S., Andermann, E., Rouleau, G.A., Delgado-Escueta, A.V., Minassian, B.A., Scherer, S.W. Nat. Genet. (2003)
- Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Lower, K.M., Turner, G., Kerr, B.A., Mathews, K.D., Shaw, M.A., Gedeon, A.K., Schelley, S., Hoyme, H.E., White, S.M., Delatycki, M.B., Lampe, A.K., Clayton-Smith, J., Stewart, H., van Ravenswaay, C.M., de Vries, B.B., Cox, B., Grompe, M., Ross, S., Thomas, P., Mulley, J.C., Gécz, J. Nat. Genet. (2002)
- Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Hoffmann, K., Dreger, C.K., Olins, A.L., Olins, D.E., Shultz, L.D., Lucke, B., Karl, H., Kaps, R., Müller, D., Vayá, A., Aznar, J., Ware, R.E., Sotelo Cruz, N., Lindner, T.H., Herrmann, H., Reis, A., Sperling, K. Nat. Genet. (2002)
- Withdrawal of anticonvulsant drugs in patients free of seizures for two years. A prospective study. Callaghan, N., Garrett, A., Goggin, T. N. Engl. J. Med. (1988)
- Treatment of self-induced photosensitive epilepsy with fenfluramine. Aicardi, J., Gastaut, H. N. Engl. J. Med. (1985)
- N,N-dimethylglycine for epilepsy. Herbert, V. N. Engl. J. Med. (1983)
- Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Schuelke, M., Smeitink, J., Mariman, E., Loeffen, J., Plecko, B., Trijbels, F., Stöckler-Ipsiroglu, S., van den Heuvel, L. Nat. Genet. (1999)
- Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. Khosravani, H., Bladen, C., Parker, D.B., Snutch, T.P., McRory, J.E., Zamponi, G.W. Ann. Neurol. (2005)
- Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. Stromberger, C., Bodamer, O.A., Stöckler-Ipsiroglu, S. J. Inherit. Metab. Dis. (2003)
- On the surgical treatment of refractory epilepsy in tuberous sclerosis complex. Baumgartner, J.E., Wheless, J.W., Kulkarni, S., Northrup, H., Au, K.S., Smith, A., Brookshire, B. Pediatric neurosurgery. (1997)
- Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Fukata, Y., Adesnik, H., Iwanaga, T., Bredt, D.S., Nicoll, R.A., Fukata, M. Science (2006)
- A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy. Stögmann, E., Zimprich, A., Baumgartner, C., Aull-Watschinger, S., Höllt, V., Zimprich, F. Ann. Neurol. (2002)
- Changes in thyrotropin-releasing hormone levels in hippocampal subregions induced by a model of human temporal lobe epilepsy: effect of partial and complete kindling. Knoblach, S.M., Kubek, M.J. Neuroscience (1997)
- Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. Rinne, R., Saukko, P., Järvinen, M., Lehesjoki, A.E. Ann. Med. (2002)
- To BDNF or not to BDNF: that is the epileptic hippocampus. Koyama, R., Ikegaya, Y. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. (2005)
- Gastrodia elata modulated activator protein 1 via c-Jun N-terminal kinase signaling pathway in kainic acid-induced epilepsy in rats. Hsieh, C.L., Lin, J.J., Chiang, S.Y., Su, S.Y., Tang, N.Y., Lin, G.G., Lin, I.H., Liu, C.H., Hsiang, C.Y., Chen, J.C., Ho, T.Y. Journal of ethnopharmacology (2007)
- 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., McHarg, M.L., Gagnon, D., Rosales, T.O., Peiffer, A., Anderson, V.E., Leppert, M. Nat. Genet. (1998)
- Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Schroeder, B.C., Kubisch, C., Stein, V., Jentsch, T.J. Nature (1998)
- Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Phillips, H.A., Scheffer, I.E., Crossland, K.M., Bhatia, K.P., Fish, D.R., Marsden, C.D., Howell, S.J., Stephenson, J.B., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S.F., Mulley, J.C. Am. J. Hum. Genet. (1998)
- Mutations in EFHC1 cause juvenile myoclonic epilepsy. Suzuki, T., Delgado-Escueta, A.V., Aguan, K., Alonso, M.E., Shi, J., Hara, Y., Nishida, M., Numata, T., Medina, M.T., Takeuchi, T., Morita, R., Bai, D., Ganesh, S., Sugimoto, Y., Inazawa, J., Bailey, J.N., Ochoa, A., Jara-Prado, A., Rasmussen, A., Ramos-Peek, J., Cordova, S., Rubio-Donnadieu, F., Inoue, Y., Osawa, M., Kaneko, S., Oguni, H., Mori, Y., Yamakawa, K. Nat. Genet. (2004)
- Discontinuing antiepileptic drugs in children with epilepsy. A comparison of a six-week and a nine-month taper period. Tennison, M., Greenwood, R., Lewis, D., Thorn, M. N. Engl. J. Med. (1994)
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- The effect of epilepsy or diabetes mellitus on the risk of automobile accidents. Hansotia, P., Broste, S.K. N. Engl. J. Med. (1991)
- NMDA receptors of dentate gyrus granule cells participate in synaptic transmission following kindling. Mody, I., Heinemann, U. Nature (1987)