IRF2BPL gene variants: One new case

Am J Med Genet A. 2020 Jan;182(1):255-256. doi: 10.1002/ajmg.a.61401. Epub 2019 Nov 15.

Authors

Carlotta Spagnoli¹, Susanna Rizzi¹, Grazia G Salerno¹, Daniele Frattini¹, Carlo Fusco^{1

2}

Affiliations

¹ Dipartimento Materno-Infantile, S.C. Neuropsichiatria Infantile, Presidio Ospedaliero Provinciale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
² Dipartimento Materno-Infantile, Laboratorio di Neurofisiologia Pediatrica, S.C. Neuropsichiatria Infantile, Presidio Ospedaliero Provinciale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

PMID: 31729144
DOI: 10.1002/ajmg.a.61401

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Adult
Carrier Proteins / genetics*
Exome Sequencing
Genetic Predisposition to Disease*
Humans
Lennox Gastaut Syndrome / genetics*
Lennox Gastaut Syndrome / pathology
Male
Nuclear Proteins / genetics*
Polymorphism, Single Nucleotide / genetics
Young Adult

Substances

Carrier Proteins
IRF2BPL protein, human
Nuclear Proteins