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Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases by Josef Davidsson; Anna Collin; Mia Engman Olsson; Johan Lundgren; Maria Soller is a Medicine article available to read on EtoBox.

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Purpose: To characterize a deletion of chromosome 2q at the molecular level in a patient suffering from severe epilepsy resembling severe myoclonic epilepsy of infancy/Dravet's syndrome (SMEI/DS) and to correlate other cases harboring deletions in the same region to morphological and clinical data. Methods: Array-based comparative genomic hybridization (array CGH) was performed on DNA from the patient. Forty-three previously published cases reporting deletions within region 2q21-q31 were collected and analyzed regarding their cytogenetic and clinical data. Results: A del(2)(q24.3q31.1) was detected in the patient, spanning a 10.4-megabase (Mb) region between 165.18 and 175.58 Mb, harboring 47 genes. FISH analysis was performed, confirming this deletion. Twenty-two of the 43 previously published cases were seizure-positive. The most common dysmorphic features were ear abnormalities, microcephaly, micrognathia and brachysyndactyly for all patients as well as for solely the seizure-positive and -negative ones. For the 22 seizure-positive cases chromosome subband 2q24.3 constituted the smallest commonly deleted region among the majority of the cases, where subbands 2q22.1 and 2q33.3 re

Who reads Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases?

Author

Josef Davidsson; Anna Collin; Mia Engman Olsson; Johan Lundgren; Maria Soller

Publisher

Elsevier Science; Elsevier ; Elsevier BV (ISSN 0920-1211)

Published

2008

Language

EN

Field

Medicine (Health Sciences)