논문KCI 등재
Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy
대한신경과학회 (Korean Neurological Association)|2020.01|Journal of Clinical Neurology|제16권 제1호|pp. 154-156
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참고문헌 (7)
- Hiéronimus S, "The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11", Eur J Endocrinol, 155, pp.47~52 (2006)
- Robin NH, "Defining the clinical spectrum of deletion 22q11. 2", J Pediatr, 147, pp.90~96 (2005)
- Wilson DI, "DiGeorge syndrome : part of CATCH 22", J Med Genet, 30, pp.852~856 (1993)
- González W, "Seizures and EEG findings in an adult patient with DiGeorge syndrome : a case report and review of the literature", Seizure, 18, pp.648~651 (2009)
- Tonelli AR, "Seizures as the first manifestation of chromosome 22q11. 2 deletion syndrome in a 40-year old man : a case report", J Med Case Rep, 1, pp.167~ (2007)
- Ryan AK, "Spectrum of clinical features associated with interstitial chromosome 22q11 deletions : a European collaborative study", J Med Genet, 34, pp.798~804 (1997)
- Strehlow V, "Generalized epilepsy and myoclonic seizures in 22q11. 2 deletion syndrome", Mol Syndromol, 7, pp.239~246 (2016)
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