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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium; Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E. Niturad CE, et al. Among authors: maljevic s. Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. Brain. 2017. PMID: 29053855
C-terminal interaction of KCNQ2 and KCNQ3 K+ channels.
Maljevic S, Lerche C, Seebohm G, Alekov AK, Busch AE, Lerche H. Maljevic S, et al. J Physiol. 2003 Apr 15;548(Pt 2):353-60. doi: 10.1113/jphysiol.2003.040980. Epub 2003 Mar 14. J Physiol. 2003. PMID: 12640002 Free PMC article.
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W. Suls A, et al. Among authors: maljevic s. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H. Liao Y, et al. Among authors: maljevic s. Brain. 2010 May;133(Pt 5):1403-14. doi: 10.1093/brain/awq057. Epub 2010 Apr 5. Brain. 2010. PMID: 20371507
KV7 channelopathies.
Maljevic S, Wuttke TV, Seebohm G, Lerche H. Maljevic S, et al. Pflugers Arch. 2010 Jul;460(2):277-88. doi: 10.1007/s00424-010-0831-3. Epub 2010 Apr 18. Pflugers Arch. 2010. PMID: 20401729 Review.
59 results