Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion

Zhou, YX; Sood, R; Wang, Q; Carrington, B; Park, M; Young, AC; Birnbaum, D; Liu, Z; Ashizawa, T; Mullikin, JC; Koubeissi, MZ; Liu, P

Liu, P (corresponding author), NHGRI, Translat & Funct Genom Branch, NIH, Bldg 50,Room 5222C,50 South Dr, Bethesda, MD 20892 USA.; Koubeissi, MZ (corresponding author), George Washington Univ, Epilepsy Ctr, Dept Neurol, MFA, 2150 Penn Ave NW 9-405, Washington, DC 20037 USA.

EPILEPSIA OPEN, 2021; 6 (1): 102

Abstract

ObjectiveOur goal was to perform detailed clinical and genomic analysis of a large multigenerational Chinese family with 21 individuals showing sympto......

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