Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations

Clin Dysmorphol. 2022 Oct 1;31(4):181-184. doi: 10.1097/MCD.0000000000000428. Epub 2022 Jun 22.

Authors

Xing Zhou¹, Feng-Ying Chen², Xing-Guang Ye¹, Zhi-Gang Liu^{1

3}

Affiliations

¹ Departments of Pediatrics.
² Radiology, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan.
³ The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China.

PMID: 35731010
DOI: 10.1097/MCD.0000000000000428

No abstract available

MeSH terms

Genetic Association Studies
Genotype
Humans
Membrane Transport Proteins* / genetics
Mutation
Nitrogen / metabolism
Penetrance
Phenotype
Spasms, Infantile* / genetics
Tumor Suppressor Proteins

Substances

Membrane Transport Proteins
Nitrogen
NPRL2 protein, human
Tumor Suppressor Proteins

Supplementary concepts

Infantile Epileptic-Dyskinetic Encephalopathy