Publications:

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.

Npj Genomic Medicine

Ostrander, Betsy E P BEP; Butterfield, Russell J RJ; Pedersen, Brent S BS; Farrell, Andrew J AJ; Layer, Ryan M RM; Ward, Alistair A; Miller, Chase C; DiSera, Tonya T; Filloux, Francis M FM; Candee, Meghan S MS; Newcomb, Tara T; Bonkowsky, Joshua L JL; Marth, Gabor T GT; Quinlan, Aaron R AR

Publication Date: 2018

Variant appearance in text: SCN1A: L1590P

PubMed Link: 30109124

Variant Present in the following documents:

• Main text
• 41525_2018_Article_61.pdf

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