Bernardo P., Galletta D., Iasevoli F., D’Ambrosio L., Troisi S., Gennaro E. et al. 2017 CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation. Seizure 51, 186–189.

Article  PubMed  Google Scholar 

Capelli L. P., Krepischi A. C. V., Gurgel-Giannetti J., Mendes M. F., Rodrigues T., Varela M. C. et al. 2012 Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Eur. J. Med. Genet. 55, 132–134.

Article  PubMed  Google Scholar 

Chen J., Zhang J., Liu A., Zhang L., Li H., Zeng Q. et al. 2020 CHD2-related epilepsy: novel mutations and new phenotypes. Dev. Med. Child. Neurol. 62, 647–653.

Article  PubMed  Google Scholar 

Chénier S., Yoon G., Argiropoulos B., Lauzon J., Laframboise R., Ahn J. W. et al. 2014 CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J. Neurodev. Disord. 6, 9.

Article  PubMed  PubMed Central  Google Scholar 

Courage C., Houge G., Gallati S., Schjelderup J. and Rieubland C. 2014 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. Eur. J. Med. Genet. 57, 520–523.

Article  PubMed  Google Scholar 

Dateki S., Nakatomi A., Watanabe S., Shimizu H., Inoue Y., Baba H. et al. 2017 Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation. J. Hum. Genet. 62, 717–721.

Article  CAS  PubMed  Google Scholar 

De Maria B., Balestrini S., Mei D., Melani F., Pellacani S., Pisano T. et al. 2022 Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy. Am. J. Med. Genet A. 188, 522–533.

Article  PubMed  Google Scholar 

Dhamija R., Breningstall G., Wong-Kisiel L., Dolan M., Hirsch B. and Wirrell E. 2011 Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy. Pediatr. Neurol. 45, 60–62.

Article  PubMed  Google Scholar 

Gandotra S., Le Dour C., Bottomley W., Cervera P., Giral P., Reznik Y. et al. 2011 Perilipin deficiency and autosomal dominant partial lipodystrophy. N. Engl. J. Med. 364, 740–748.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kranendijk M., Struys E. A., van Schaftingen E., Gibson K. M., Kanhai W. A., van der Knaap M. S. et al. 2010 IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 330, 336.

Article  CAS  PubMed  Google Scholar 

Lund C., Brodtkorb E., Røsby O., Rødningen O. K. and Selmer K. K. 2013 Copy number variants in adult patients with Lennox–Gastaut syndrome features. Epilepsy Res. 105, 110–117.

Article  CAS  PubMed  Google Scholar 

Lund C., Brodtkorb E., Øye A. M., Røsby O. and Selmer K. K. 2014 CHD2 mutations in Lennox–Gastaut syndrome. Epilepsy Behav. 33, 18–21.

Article  PubMed  Google Scholar 

Machado V. H., Palmini A., Bastos F. A. and Rotert R. 2011 Long-term control of epileptic drop attacks with the combination of valproate, lamotrigine, and a benzodiazepine: a ‘proof of concept’, open label study. Epilepsia 52, 1303–1310.

Article  CAS  PubMed  Google Scholar 

Marfella C. G. and Imbalzano A. N. 2007 The Chd family of chromatin remodelers. Mutat. Res. 618, 30–40.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mullen S. A., Carvill G. L., Bellows S., Bayly M. A., Trucks H., Lal D. et al. 2013 Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 81, 1507–1514.

Article  PubMed  PubMed Central  Google Scholar 

Parisi C., Candela-Cantó S., Serrano M., Catala A., Aparicio J. and Hinojosa J. 2020 Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report. Childs Nerv. Syst. 36, 2851–2856.

Article  PubMed  Google Scholar 

Pinto D., Pagnamenta A. T., Klei L., Anney R., Merico D., Regan R. et al. 2010 Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368–372.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schulte C., Synofzik M., Gasser T. and Schöls L. 2009 Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 73, 898–900.

Article  PubMed  Google Scholar 

van der Steen M., Pfundt R., Maas S. J. W. H., Bakker-van Waarde W. M., Odink R. J. and Hokken-Koelega A. C. S. 2017 ACAN gene mutations in short children born sga and response to growth hormone treatment. J. Clin. Endocrinol. Metab. 102, 1458–1467.

Article  PubMed  Google Scholar 

Van Goethem G., Dermaut B., Löfgren A., Martin J. J. and Van Broeckhoven C. 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 28, 211–212.

Article  PubMed  Google Scholar 

Veredice C., Bianco F., Contaldo I., Orteschi D., Stefanini M. C., Battaglia D. et al. 2009 Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. Epilepsia 50, 1810–1815.

Article  CAS  PubMed  Google Scholar 

Verhoeven W. M., Egger J. I., Knegt A. C., Zuydam J. and Kleefstra T. 2016 Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2. Neuropsychiatr. Dis. Treat. 12, 1135–1139.

Article  PubMed  PubMed Central  Google Scholar