Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy
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Manuela Pendziwiat | H. Muhle | Y. Weber | I. Helbig | Annika Rademacher | N. Schwarz | Simone Seiffert | A. van Baalen | A. Rohr | A. Rademacher
[1] Carmela Bravaccio,et al. Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough? , 2018, Italian Journal of Pediatrics.
[2] L. Kaczmarek,et al. Kv3 Channels: Enablers of Rapid Firing, Neurotransmitter Release, and Neuronal Endurance. , 2017, Physiological reviews.
[3] C. Stafstrom,et al. Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–weber Syndrome , 2017 .
[4] E. Bourel-ponchel,et al. Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome , 2016, Clinical genetics.
[5] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[6] M. Daly,et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy , 2014, Nature Genetics.
[7] H. Mefford,et al. The genetic landscape of infantile spasms. , 2014, Human molecular genetics.
[8] A. Bolčeková,et al. Thirty‐Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients , 2013, Annals of human genetics.
[9] A. Constanti,et al. The mTOR Signaling Pathway in the Brain: Focus on Epilepsy and Epileptogenesis , 2012, Molecular Neurobiology.
[10] Min-Ju Kim,et al. Down-regulation of delayed rectifier K+ channels in the hippocampus of seizure sensitive gerbils , 2009, Brain Research Bulletin.
[11] R. Tenconi,et al. Neurofibromatosis type 1 and infantile spasms , 2009, Child's Nervous System.
[12] P. Wahle,et al. Neuronal activity and TrkB ligands influence Kv3.1b and Kv3.2 expression in developing cortical interneurons , 2008, Neuroscience.
[13] D. Evans,et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 , 2006, Journal of Medical Genetics.
[14] D. Contreras,et al. Impaired Fast-Spiking, Suppressed Cortical Inhibition, and Increased Susceptibility to Seizures in Mice Lacking Kv3.2 K+ Channel Proteins , 2000, The Journal of Neuroscience.
[15] O. Dulac,et al. Neurofibromatosis Type One and West Syndrome: A Relatively Benign Association , 1993 .