Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review

World J Pediatr. 2022 Sep;18(9):636-641. doi: 10.1007/s12519-022-00567-9. Epub 2022 Jul 19.

Authors

Zou Pan¹, Chen Chen¹, Fei Yin¹, Jing Peng^{2

3}

Affiliations

¹ Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, 410008, China.
² Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, 410008, China. pengjing4346@163.com.
³ Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China. pengjing4346@163.com.

PMID: 35852783
DOI: 10.1007/s12519-022-00567-9

No abstract available

Publication types

Letter
Review

MeSH terms

Carrier Proteins / genetics
Epilepsy* / genetics
Genotype
Humans
Nerve Tissue Proteins / genetics
Neurodevelopmental Disorders* / diagnosis
Neurodevelopmental Disorders* / genetics
Phenotype

Substances

Carrier Proteins
NBEA protein, human
Nerve Tissue Proteins