A targeted resequencing gene panel for focal epilepsy

OBJECTIVES:We report development of a targeted resequencing gene panel for focal epilepsy, the most prevalent phenotypic group of the epilepsies. METHODS:The targeted resequencing gene panel was designed using molecular inversion probe (MIP) capture technology and sequenced using massively parallel...

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Veröffentlicht in:	Neurology 2016-04, Vol.86 (17), p.1605-1612
Hauptverfasser:	Hildebrand, Michael S, Myers, Candace T, Carvill, Gemma L, Regan, Brigid M, Damiano, John A, Mullen, Saul A, Newton, Mark R, Nair, Umesh, Gazina, Elena V, Milligan, Carol J, Reid, Christopher A, Petrou, Steven, Scheffer, Ingrid E, Berkovic, Samuel F, Mefford, Heather C
Format:	Artikel
Sprache:	eng
Schlagworte:	Cadherins - genetics Cohort Studies Epilepsies, Partial - genetics Female Genetic Predisposition to Disease Genetic Testing - methods High-Throughput Nucleotide Sequencing - methods Humans Male Mutation NAV1.1 Voltage-Gated Sodium Channel - genetics Nerve Tissue Proteins - genetics Potassium Channels - genetics Receptors, N-Methyl-D-Aspartate - genetics Receptors, Nicotinic - genetics Sequence Analysis, DNA - methods
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