Characteristics of epilepsy secondary to mutations in the PNKP gene

Neurologia (Engl Ed). 2021 Nov-Dec;36(9):713-716. doi: 10.1016/j.nrleng.2020.11.013. Epub 2021 Jul 9.

Authors

M Furones García¹, N V Ortiz Cabrera², V Soto Insuga³, J J García Peñas³

Affiliations

¹ Departamento de Neurología, Hospital Niño Jesús, Madrid, Spain. Electronic address: [email protected].
² Departamento de Genética, Hospital Niño Jesús, Madrid, Spain.
³ Departamento de Neurología, Hospital Niño Jesús, Madrid, Spain.

PMID: 34247972
DOI: 10.1016/j.nrleng.2020.11.013

No abstract available

Publication types

Letter

MeSH terms

DNA Repair Enzymes* / genetics
Epilepsy* / genetics
Humans
Mutation
Phosphotransferases (Alcohol Group Acceptor) / genetics

Substances

PNKP protein, human
Phosphotransferases (Alcohol Group Acceptor)
DNA Repair Enzymes