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Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A

โœ Scribed by Marilena Vecchi; Matteo Cassina; Alberto Casarin; Chiara Rigon; Paola Drigo; Luca De Palma; Maurizio Clementi


Book ID
116880911
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
390 KB
Volume
20
Category
Article
ISSN
1059-1311

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Identification and molecular confirmatio
โœ Tonk, Vijay ;Schneider, Nancy R. ;Delgado, Mauricio R. ;Mao, Jen-i ;Schultz, Rog ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 21 KB ๐Ÿ‘ 3 views

We describe a family in which two siblings exhibited developmental delay, reduced muscle tone and mild muscle weakness. Cytogenetic evaluation demonstrated that both children had a tandem duplication of a small portion of the long arm of chromosome 10 [46,XX or XY,dir dup(lO)(q24.2+q24.3)], inherite