Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Author:

Bartnik Magdalena,Szczepanik Elżbieta,Derwińska Katarzyna,Wiśniowiecka-Kowalnik Barbara,Gambin Tomasz,Sykulski Maciej,Ziemkiewicz Kamila,Kędzior Marta,Gos Monika,Hoffman-Zacharska Dorota,Mazurczak Tomasz,Jeziorek Anetta,Antczak-Marach Dorota,Rudzka-Dybała Mariola,Mazurkiewicz Hanna,Goszczańska-Ciuchta Alicja,Zalewska-Miszkurka Zofia,Terczyńska Iwona,Sobierajewicz Małgorzata,Shaw Chad A.,Gambin Anna,Mierzewska Hanna,Mazurczak Tadeusz,Obersztyn Ewa,Bocian Ewa,Stankiewicz Paweł

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Reference80 articles.

1. Questionable pathogenicity of FOXG1 duplication;Amor;Eur J Hum Genet,2012

2. Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene;Bahi-Buisson;Am J Med Genet B Neuropsychiatr Genet,2010

3. Spectrum of epilepsy in terminal 1p36 deletion syndrome;Bahi-Buisson;Epilepsia,2008

4. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2;Ballif;Nat Genet,2007

5. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females;Bartnik;Genet Med,2011

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