Relevant genetic findings for practical applications

被引：0
作者：
Kegele J. [1 ]
Weber Y.G. [1 ]
机构：
[1] Abteilung Neurologie mit Schwerpunkt Epileptologie, Zentrum für Neurologie, Hertie Institut für Klinische Hirnforschung, Universität Tübingen, Hoppe-Seyler-Str. 3, Tübingen
来源：
Zeitschrift für Epileptologie | 2016年 / 29卷 / 2期
关键词：
Exomes; Gene panel; Genetic counselling; Genetic testing; Individualized therapy;
D O I：
10.1007/s10309-015-0035-0
中图分类号：
学科分类号：
摘要：
Genetic testing is an emerging field in clinical epileptology. It is an important tool for verifying the clinical diagnosis, which enables us to predict the long-term outcome of a patient. In certain cases, the detection of a mutation even modifies our therapeutic approach. It also helps us in genetic counselling. This article focusses on gene variants that have a possible influence on therapeutic decisions. These are not only mutations which indicate whether a drug should be preferred or avoided, based on the functional consequences, but may also predict side effects. Genetics and pharmacogenetics in epilepsy are fast growing fields which promise to provide much more information to clinicians in the future to intensify individualized anticonvulsive treatment. © 2015, Springer-Verlag Berlin Heidelberg.
引用
收藏
页码：87 / 92
页数：5
相关论文
共 33 条
  • [1] Chen P., Lin J.J., Lu C.S., Et al., Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan, N Engl J Med, 364, pp. 1126-1133, (2011)
  • [2] Chen W.-J., Lin Y., Xiong Z.-Q., Et al., Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia, Nat Genet, 43, pp. 1252-1255, (2011)
  • [3] Claes L., Del-Favero J., Ceulemans B., Et al., De novo mutations in the sodium-channel gene SCN1a cause severe Myoclonic epilepsy of infancy, Am J Hum Genet, 68, pp. 1327-1332, (2001)
  • [4] De Vivo D.C., Trifiletti R.R., Jacobson R.I., Et al., Defective glucose transport across the blood-brain barrier as a cause of persistent Hypoglycorrhachia, seizures, and developmental delay, N Engl J Med, 325, pp. 703-709, (1991)
  • [5] Dravet C., Les epilepsies graves de l’enfant, Vie Med, 8, pp. 543-548, (1978)
  • [6] Grover S., Kukreti R., HLA alleles and hypersensitivity to carbamazepine: an updated systematic review with meta-analysis, Pharmacogenet Genom, 24, pp. 94-112, (2014)
  • [7] Guerrini R., Dravet C., Genton P., Et al., Lamotrigine and seizure aggravation in severe myoclonic epilepsy, Epilepsia, 39, pp. 508-512, (1998)
  • [8] Heron S.E., Grinton B.E., Kivity S., Et al., PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with Choreoathetosis syndrome, Am J Hum Genet, 90, pp. 152-160, (2012)
  • [9] Hung S.-I., Chung W.-H., Jee S.-H., Et al., Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions, Pharmacogenet Genom, 16, pp. 297-306, (2006)
  • [10] Kerr P.M., Clement-Chomienne O., Thorneloe K.S., Et al., Heteromultimeric Kv1.2–Kv1.5 channels underlie 4-aminopyridine-sensitive delayed rectifier K(+) current of rabbit vascular myocytes, Circ Res, 89, pp. 1038-1044, (2001)
1234