Associated Papers
Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.
Ragona F et al.
Neurosci, 2025
Phenotyping Gaze: Hallmarks of Recessive Ataxia with PNKP Gene Variant.
de Moura RJP et al.
Movement Disorders Clinical Practice, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
PNKP mutation in a child: is there a firm line between MCSZ and AOA4 phenotype?
Semnic I et al.
Neurologia I Neurochirurgia Polska, 2024
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia.
Bayram N et al.
Pediatric Transplantation, 2022
Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.
Jiang B et al.
Scientific Reports, 2022
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2021
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Bitarafan F et al.
Fetal and Pediatric Pathology, 2021
Mutational survivorship bias: The case of PNKP.
Bermúdez-Guzmán L et al.
Plos One, 2020
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Gatti M et al.
American Journal of Medical Genetics. Part A, 2019
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.
Caputi C et al.
Parkinsonism & Related Disorders, 2019
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Taniguchi-Ikeda M et al.
Clinical Genetics, 2018
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Bras J et al.
American Journal of Human Genetics, 2015
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Nakashima M et al.
Journal of Human Genetics, 2014
Characteristics of epilepsy secondary to mutations in the PNKP gene.
Furones García M et al.
Neurologia, 0