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Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W. Schwarz N, et al. Among authors: lerche h. Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7. Eur J Paediatr Neurol. 2019. PMID: 30928199
A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.
Lerche H, Biervert C, Alekov AK, Schleithoff L, Lindner M, Klinger W, Bretschneider F, Mitrovic N, Jurkat-Rott K, Bode H, Lehmann-Horn F, Steinlein OK. Lerche H, et al. Ann Neurol. 1999 Sep;46(3):305-12. doi: 10.1002/1531-8249(199909)46:3<305::aid-ana5>3.0.co;2-5. Ann Neurol. 1999. PMID: 10482260
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H. Weber YG, et al. Among authors: lerche h. Neurology. 2011 Sep 6;77(10):959-64. doi: 10.1212/WNL.0b013e31822e0479. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832227
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium. Striano P, et al. Among authors: lerche h. Neurology. 2012 Feb 21;78(8):557-62. doi: 10.1212/WNL.0b013e318247ff54. Epub 2012 Jan 25. Neurology. 2012. PMID: 22282645
342 results