Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: Identification of novel mutations

Author:

Raymond Laure,Diebold Bertrand,Leroux Céline,Maurey Hélène,Drouin-Garraud Valérie,Delahaye Andre,Dulac Olivier,Metreau Julia,Melikishvili Gia,Toutain Annick,Rivier François,Bahi-Buisson Nadia,Bienvenu Thierry

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference19 articles.

1. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients;Archer;J. Med. Genet.,2006

2. Key clinical features to identify girls with CDKL5 mutations;Bahi-Buisson;Brain,2008

3. 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

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

5. Epilepsy caused by CDKL5 mutations;Castrén;Eur. J. Paediatr. Neurol.,2011

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