TY  - GEN
AU  - Rochtus,Anne M
AU  - Trowbridge,Sara
AU  - Goldstein,Richard D
AU  - Sheidley,Beth Rosen
AU  - Prabhu,Sanjay P
AU  - Haynes,Robin
AU  - Kinney,Hannah C
AU  - Poduri,Annapurna H
TI  - Mutations in 
SN  - 2373-2873
PY  - 2020///0330
KW  - Animals
KW  - Calcium-Binding Proteins
KW  - genetics
KW  - Fatal Outcome
KW  - Female
KW  - Humans
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Neural Cell Adhesion Molecules
KW  - Pedigree
KW  - Respiratory Insufficiency
KW  - Spasms, Infantile
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S
UR  - https://doi.org/10.1101/mcs.a003442
ER  -