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

被引：4

作者：

Giacomini, Thea ^{[1
]}

Pisciotta, Livia ^{[1
]}

Prato, Giulia ^{[1
]}

Meola, Irene ^{[1
]}

Zara, Federico ^{[2
]}

Fiorillo, Chiara ^{[3
]}

Baratto, Serena ^{[4
]}

Severino, Mariasavina ^{[5
]}

De Grandis, Elisa ^{[1
]}

Mancardi, Maria Margherita ^{[6
]}

机构：

[1] Univ Genoa, Unit Child Neuropsychiat, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy

[2] IRCSS Ist Giannina Gaslini, Lab Neurogenet & Neurosci, Genoa, Italy

[3] Univ Genoa, Unit Paediat Neurol & Muscular Dis, IRCSS Ist Giannina Gaslini, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy

[4] IRCSS Ist Giannina Gaslini, Ctr Traslat & Expt Myol, Genoa, Italy

[5] IRCSS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Italy

[6] IRCSS Ist Giannina Gaslini, Dept Med & Surg Neurosci & Rehabil, Epilepsy Ctr, Unit Child Neuropsychiat, Genoa, Italy

来源：

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2019年 / 70卷

关键词：

Early-onset developmental and epileptic encephalopathy; SLC25A22 pathogenic variant; Mitochondrial glutamate carrier; Tonic seizures; Microcephaly;

D O I：

10.1016/j.seizure.2019.06.029

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：56 / 58

页数：3

共 4 条

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[4] Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
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