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Severe epilepsy in an adult with partial trisomy 18q
Author(s) -
del Gaudio Luigi,
Striano Salvatore,
Coppola Antonietta
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36743
Subject(s) - epilepsy , partial trisomy , trisomy , phenotype , angelman syndrome , partial seizures , electroencephalography , medicine , pediatrics , karyotype , chromosome , neuroscience , biology , genetics , gene
Epilepsy is one of the most common presentations associated with chromosome aberrations. Detailed descriptions of some aberration‐specific epileptic and electroencephalographic (EEG) phenotypes have been reported (i.e., Angelman syndrome, ring 20 etc.). However there is limited and mixed information about the characteristics of epilepsy related to trisomy 18. Thus a common seizure phenotype has not been characterized yet. Here we describe in detail a patient with refractory epilepsy and partial 18q trisomy. © 2014 Wiley Periodicals, Inc.