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Article

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

American journal of medical genetics. Part A - 1 Jan 2016

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26437767
DOI: 10.1002/ajmg.a.37410

Genes

HIP1
MAGI2
YWHAG

Provenance

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Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.PMID 26437767Read ↗

[Atypical deletions in Williams-Beuren syndrome].Semantic proximity Read ↗

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