De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
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DOI: 10.1371/journal.pgen.1007281
Abstract: Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysis and… read more here.
Keywords: variants map1b; novo inherited; periventricular nodular; nodular heterotopia ... See more keywords