Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review

Thea Giacomini; Livia Pisciotta; Giulia Prato; Irene Meola; Federico Zara; Chiara Fiorillo; Serena Baratto; Mariasavina Severino; Elisa De Grandis; Maria Margherita Mancardi

doi:10.1016/j.seizure.2019.06.029

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review

Thea Giacomini, Livia Pisciotta, Giulia Prato, Irene Meola, Federico Zara, Chiara Fiorillo, Serena Baratto, Mariasavina Severino, Elisa De Grandis, Maria Margherita Mancardi

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	56-58
Number of pages	3
Journal	Seizure
Volume	70
DOIs	https://doi.org/10.1016/j.seizure.2019.06.029
Publication status	Published - Aug 2019

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10.1016/j.seizure.2019.06.029

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Giacomini, T., Pisciotta, L., Prato, G., Meola, I., Zara, F., Fiorillo, C., Baratto, S., Severino, M., De Grandis, E., & Mancardi, M. M. (2019). Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review. Seizure, 70, 56-58. https://doi.org/10.1016/j.seizure.2019.06.029

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22 : Case report and literature review. / Giacomini, Thea; Pisciotta, Livia; Prato, Giulia; Meola, Irene; Zara, Federico ; Fiorillo, Chiara ; Baratto, Serena ; Severino, Mariasavina ; De Grandis, Elisa ; Mancardi, Maria Margherita.

In: Seizure, Vol. 70, 08.2019, p. 56-58.

Research output: Contribution to journal › Article › peer-review

Giacomini, T, Pisciotta, L, Prato, G, Meola, I, Zara, F , Fiorillo, C , Baratto, S , Severino, M , De Grandis, E & Mancardi, MM 2019, 'Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review', Seizure, vol. 70, pp. 56-58. https://doi.org/10.1016/j.seizure.2019.06.029

Giacomini, Thea ; Pisciotta, Livia ; Prato, Giulia ; Meola, Irene ; Zara, Federico ; Fiorillo, Chiara ; Baratto, Serena ; Severino, Mariasavina ; De Grandis, Elisa ; Mancardi, Maria Margherita. / Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22 : Case report and literature review. In: Seizure. 2019 ; Vol. 70. pp. 56-58.

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author = "Thea Giacomini and Livia Pisciotta and Giulia Prato and Irene Meola and Federico Zara and Chiara Fiorillo and Serena Baratto and Mariasavina Severino and {De Grandis}, Elisa and Mancardi, {Maria Margherita}",

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AU - De Grandis, Elisa

AU - Mancardi, Maria Margherita

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