A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy
Abstract
:1. Introduction
2. Discussion
3. Materials and Methods
3.1. Case Report
3.2. Genetic Analysis
4. Conclusions
Author Contributions
Conflicts of Interest
References
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Rapaccini, V.; Esposito, S.; Strinati, F.; Allegretti, M.; Manfroi, E.; Miconi, F.; Pitzianti, M.; Prontera, P.; Principi, N.; Pasini, A. A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy. Int. J. Mol. Sci. 2018, 19, 1976. https://doi.org/10.3390/ijms19071976
Rapaccini V, Esposito S, Strinati F, Allegretti M, Manfroi E, Miconi F, Pitzianti M, Prontera P, Principi N, Pasini A. A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy. International Journal of Molecular Sciences. 2018; 19(7):1976. https://doi.org/10.3390/ijms19071976
Chicago/Turabian StyleRapaccini, Valentina, Susanna Esposito, Francesco Strinati, Mariella Allegretti, Elisabetta Manfroi, Francesco Miconi, Mariabernarda Pitzianti, Paolo Prontera, Nicola Principi, and Augusto Pasini. 2018. "A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy" International Journal of Molecular Sciences 19, no. 7: 1976. https://doi.org/10.3390/ijms19071976