Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.
Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T.
Zerem A, et al.
Eur J Paediatr Neurol. 2014 Sep;18(5):567-71. doi: 10.1016/j.ejpn.2014.04.008. Epub 2014 Apr 18.
Eur J Paediatr Neurol. 2014.
PMID: 24814476