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Epilepsia|June 26, 2003
A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsyTobias Leniger, Colette Kananura, Andreas Hufnagel, et al.
Neurosurgical Review|October 25, 2007
Multiple cerebral cavernous malformations associated with extracranial mesenchymal anomaliesArdavan Ardeshiri, Ardeshir Ardeshiri, Andres Beiras-Fernandez, et al.
Archives of Neurology|May 21, 2003
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutationSimone Kraner, Iris Laufenberg, Hans M Strassburg, et al.
Epilepsia|January 21, 2016
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3Georg-Christoph Korenke, Marlene Eggert, Holger Thiele, et al.
BMC Cancer|July 9, 2010
Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literaturePeter M Prodinger, Mario Sarbia, Jörg Massmann, et al.
Neurobiology of Disease|June 21, 2005
The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficitsDaniel Bertrand, Frances Elmslie, Elaine Hughes, et al.
The Turkish Journal of Pediatrics|February 6, 2008
A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC)Ozlem Yalçin, S Hande Cağlayan, Sema Saltik, et al.
BMC Cell Biology|June 14, 2014
Distinct nuclear orientation patterns for mouse chromosome 11 in normal B lymphocytesAnn-Kristin Schmälter, Alexandra Kuzyk, Christiaan H Righolt, et al.
Human Mutation|September 14, 2011
Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizuresSnezana Maljevic, Georgios Naros, Özlem Yalçin, et al.
Molecular Biology and Evolution|July 15, 2005
Using gene-history and expression analyses to assess the involvement of LGI genes in human disordersWenli Gu, Yann Gibert, Thierry Wirth, et al.
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