De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • PROF Sam Berkovic
    • WHITTEMORE V
    • ANGIONE K
    • BAZIL CW
    • BIER L
    • BLUVSTEIN J
    • BRIMBLE E
    • CAMPBELL C
    • CHAMBERS C
    • CHOI H
    • CILIO MR
    • DIXON-SALAZAR T
    • CILIBERTO M
    • CORNES S
    • DELANTY N
    • DEMAREST S
    • DEVINSKY O
    • DLUGOS D
    • DUBBS H
    • DUGAN P
    • ERNST ME
    • GALLENTINE W
    • GOLDSTEIN DB
    • GIBBONS M
    • GOODKIN H
    • MS Bronwyn Grinton
    • HELBIG I
    • JANSEN L
    • JOHNSON K
    • JOSHI C
    • LIPPA NC
    • MAKATI MA
    • MARSH E
    • HEINZEN EL
    • MARTINEZ A
    • MILLICHAP J
    • MOSKOVICH Y
    • MULHERN MS
    • NUMIS A
    • PARK K
    • PODURI A
    • PORTER B
    • SANDS TT
    • PROF Ingrid Scheffer
    • LAUGHLIN BL
    • SHEIDLEY B
    • SINGHAL N
    • SMITH L
    • SULLIVAN J
    • RIVIELLO JJ
    • TAYLOR A
    • TOLETE P
    • LOWENSTEIN DH
    • LUBBERS L
    • MILDER J
    • STEWART R

Published in

  • Genetics in Medicine

Time

Date/time value

  • 2018

Identity

Digital Object Identifier (DOI)

  • 10.1038/gim.2017.100

Additional Document Info

Parent Title

  • GENETICS IN MEDICINE

Volume

  • 20

Issue

  • 2

Publisher

  • Lippincott Williams & Wilkins