Epilepsy in Kostmann syndrome: report of a case and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13760-015-0533-x.pdf
Reference8 articles.
1. Rezaei N, Moin M, Pourpak Z et al (2007) The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol 27:525–533
2. Matsubara K, Imai K, Okada S et al (2007) Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency. Haematologica 92:e123–e125
3. Germeshausen M, Grudzien M, Zeidler C et al (2008) Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype–phenotype associations. Blood 15(111):4954–4957
4. Carlsson G, Van’t Hooft I, Melin M et al (2008) Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 264:388–400
5. Faiyaz-Ul-Haque M, Al-Jefri A, Al-Dayel F et al (2010) A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. Eur J Pediatr 169:661–666
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review;Frontiers in Pediatrics;2020-12-14
2. Congenital neutropenia and primary immunodeficiency diseases;Critical Reviews in Oncology/Hematology;2019-01
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