Abstract
In a three-generation family, five individuals exhibited the typical phenotype of paroxysmal kinesigenic dyskinesia (PKD). Intriguingly, one of the individuals also showed benign familial infantile convulsions (BFIC) at age 4 months and spontaneously resolved at age 18 months. At age 12, she developed a typical PKD, and was gradually relieved at age 21. Therefore, the clinical phenotype was consistent with PKD with infantile convulsions (PKD/IC). Whole exome sequence and co-segregation analysis revealed a novel heterozygous variant c.1085A > G in the TMEM151A gene. Our study suggests that the TMEM151A gene may be associated with the disease spectrum of PKD-PKD/IC-BFIC.
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Funding
This study was supported by funding from the National Natural Science Foundation of China (grant nos. 81460199 and 82160252), the Science and technology project of Jiangxi Health Commission (202110028), and the Double Thousand Talents Program of Jiangxi Province (jxsq2019101021).
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W.H. contributed to research execution and manuscript composition; H.P. and Z.M. contributed to genetic evaluation; F.X. and W.C contributed to critical review and revision of manuscript; H.D. contributed to design, conception, and manuscript composition.
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Wang, H., Huang, P., Zhu, M. et al. TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions. Neurol Sci 43, 6095–6099 (2022). https://doi.org/10.1007/s10072-022-06208-3
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DOI: https://doi.org/10.1007/s10072-022-06208-3