Epilepsy in Kostmann syndrome: report of a case and review of the literature

Acta Neurol Belg. 2016 Sep;116(3):359-62. doi: 10.1007/s13760-015-0533-x. Epub 2015 Aug 29.

Authors

A Bartocci¹, D Laino², G Di Cara², A Verrotti²

Affiliations

¹ Department of Neurophysiopathology, Hospital "Santa Maria della Misericordia", Perugia, Italy. [email protected].
² Department of Pediatrics, University of Perugia, Perugia, Italy.

PMID: 26319127
DOI: 10.1007/s13760-015-0533-x

No abstract available

Publication types

Case Reports
Letter
Review

MeSH terms

Adaptor Proteins, Signal Transducing / deficiency
Adaptor Proteins, Signal Transducing / genetics
Child
Congenital Bone Marrow Failure Syndromes
Electroencephalography
Epilepsy / etiology*
Epilepsy / physiopathology
Humans
Male
Neutropenia / complications
Neutropenia / congenital*
Neutropenia / genetics
Neutropenia / physiopathology

Substances

Adaptor Proteins, Signal Transducing
HAX1 protein, human

Supplementary concepts

Neutropenia, Severe Congenital, Autosomal Recessive 3