NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report
For male children with unexplained neurodevelopmental disorders and comorbidities such as obesity, dystonia, and seizures, mutations in related genes such as NEXMIF should be considered. Clinical practice should improve genetic testing as early as possible to provide a basis for genetic counseling.
Authors
- Hongli Qi
- Yunhui Zhu
- Xie Zhang (ORCID: https://orcid.org/0000-0003-3424-9253)
- Tingting Fu (ORCID: https://orcid.org/0009-0008-2506-8390)
- Ying Zhang (ORCID: https://orcid.org/0000-0001-9900-7568)
- Dongju Pan
Institutions
- Puer University (CN)
Publication Details
- Journal
- Actas Españolas de Psiquiatría
- Published
- 2024-08-05
- DOI
- https://doi.org/10.62641/aep.v52i4.1625
- Citations
- 5
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.75