Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum-Reference-Cited by-同舟云学术

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

Published:2018-02 Issue:2 Volume:40 Page:134-139
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Nakamura Yuji,Togawa Yasuko,Okuno Yusuke,Muramatsu Hideki,Nakabayashi Kazuhiko,Kuroki Yoko,Ieda Daisuke,Hori Ikumi,Negishi Yutaka,Togawa Takao,Hattori Ayako,Kojima Seiji,Saitoh Shinji

Funder

Japanese Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference9 articles.

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3. Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum;Basel-Vanagaite;Am J Hum Genet,2013

4. An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability;Falcone;PLoS One,2013

5. Whole exome sequencing in patients with white matter abnormalities;Vanderver;Ann Neurol,2016

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2. Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review;Seizure: European Journal of Epilepsy;2024-01

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