CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy
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Abstract
Objective: To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations.
Methods: Eight boys (age range 3–16 years, mean age 8.5 years, SD 4.38) with severe or profound mental retardation and early-onset intractable seizures were selected for CDKL5 gene mutation screening by denaturing high-performance liquid chromatography analysis.
Results: We found three unrelated boys carrying three different missense mutations of the CDKL5 gene: c.872G>A (p.C291Y), c.863C>T (p.T288I), and c.533G>C (p.R178P). They presented early-onset, polymorphous, and drug-resistant seizures, mostly myoclonic and tonic or spasms. EEG showed epileptiform abnormalities which were multifocal during wakefulness, and pseudoperiodic bisynchronous during sleep.
Conclusions: This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. Screening for CDKL5 mutations is strongly recommended in individuals with these clinical features.
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Disputes & Debates: Rapid online correspondence
- CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy
- Sabrina Buoni, Unit of Child Psychiatry and Neurology, Policlinico Le Scotte, University of Siena, 53100, Siena, Italysabrinabuoni@clicsi.net
- Raffaella Zannolli, Joseph Hayek
Submitted January 16, 2009 - Reply from the authors
- Maurizio Elia, Oasi Institute for Research on Mental Retardation and Brain Aging, Via Conte Ruggero 73. 94018 Troina (EN), Italymelia@oasi.en.it
- Marco Fichera, Michele Falco
Submitted January 16, 2009 - CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy
- Yann Fichou, Université Paris Descartes, CNRS (UMR 8104), Institut Cochin,, 24 rue du Faubourg Saint Jacques. 75014 Paris, Francethierry.bienvenu@inserm.fr
- Eric Bieth, Nadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, Jamel Chelly, Yves Chaix, and Thierry Bienvenu
Submitted December 05, 2008 - Reply from the authors
- Maurizio Elia, Oasi Institute for Research on Mental Retardation and Brain Aging, Oasi Maria SS. Institute (IRCCS), Via Conte Ruggero 73, 94018 Troina (EN) Italymelia@oasi.en.it
- Michele Falco, Marco Fichera
Submitted December 05, 2008
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