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Epilepsy is a possible feature in Williams‐Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region
Author(s) -
Nicita Francesco,
Garone Giacomo,
Spalice Alberto,
Savasta Salvatore,
Striano Pasquale,
Pantaleoni Chiara,
Spartà Maria Valentina,
Kluger Gerhard,
Capovilla Giuseppe,
Pruna Dario,
Freri Elena,
D'Arrigo Stefano,
Verrotti Alberto
Publication year - 2016
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.37410
Subject(s) - epilepsy , cortical dysplasia , phenotype , medicine , dysplasia , pathology , gene , biology , neuroscience , genetics
Seizures are rarely reported in Williams‐Beuren syndrome (WBS)—a contiguous‐gene‐deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5–1.8 Mb—and no previous study evaluated electro‐clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be responsible for a more pronounced neurological phenotypes, especially including seizures. Our objectives are to describe the electro‐clinical features in WBS and to correlate the epileptic phenotype with deletion of the 7q11.23 critical region. We evaluate the electro‐clinical features in one case of distal 7q11.23 deletion syndrome and in eight epileptic WBS (eWBS) patients. Additionally, we compare the deletion size—and deleted genes—of four epileptic WBS (eWBS) with that of four non‐epileptic WBS (neWBS) patients. Infantile spasms, focal (e.g., motor and dyscognitive with autonomic features) and generalized (e.g., tonic‐clonic, tonic, clonic, myoclonic) seizures were encountered. Drug‐resistance was observed in one patient. Neuroimaging discovered one case of focal cortical dysplasia, one case of fronto‐temporal cortical atrophy and one case of periventricular nodular heterotopia. Comparison of deletion size between eWBS and neWBS patients did not reveal candidate genes potentially underlying epilepsy. This is the largest series describing electro‐clinical features of epilepsy in WBS. In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1 , YWHAG or MAGI2 . © 2015 Wiley Periodicals, Inc.