Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

Epilepsia

Volumn 57, Issue 1, 2016, Pages e12-e17

  Allen, Nicholas M ^a   Conroy, Judith ^a   Shahwan, Amre ^a   Lynch, Bryan ^a   Correa, Raony G ^c   Pena, Sergio D J ^c   McCreary, Dara ^a   Magalhães, Tiago R ^b,d   Ennis, Sean ^b   Lynch, Sally A ^b   King, Mary D ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^d OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

encephalopathy; epilepsy; infantile spasms

Indexed keywords

EXOME; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HUMAN; INFANT; MALE; MUTATION; PHENOTYPE; PHYSIOLOGY; RETROSPECTIVE STUDY; SPASMS, INFANTILE;

EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; SPASMS, INFANTILE;

EID: 84954078188     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13250     Document Type: Article

References (15)

1. Nakamura K, Kato M, Osaka H, et al., Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013; 81: 992-998.
2. Møller RS, Heron SE, Larsen LH, et al., Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia 2015; 56: e114-e120.
3. Torkamani A, Bersell K, Jorge BS, et al., De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol 2014; 76: 529-540.
4. Pena SD, Coimbra RL,. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. Clin Genet 2015; 87: e1-e3.
5. Syrbe S, Hedrich UB, Riesch E, et al., De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet 2015; 47: 393-399.
6. EuroEPINOMICS-RES Consortium. Epilepsy Phenome/Genome Project & Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 causes epileptic encephalopathies. Am J Hum Genet 2014; 95: 360-370.
7. Endele S, Rosenberger G, Geider K, et al., Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010; 42: 1021-1026.
8. Philips AK, Sirén A, Avela K, et al., X-exome sequencing in Finnish families with intellectual disability-four novel mutations and two novel syndromic phenotypes. Orphanet J Rare Dis 2014; 9: 49.
9. Sapio MR, Salzmann A, Vessaz M, et al., Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy. J Biol Chem 2012; 287: 42900-42909.
10. Sapio MR, Vessaz M, Thomas P, et al., Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy. PLoS ONE 2015; 10: e0123180.
11. Mercimek-Mahmutoglu S, Patel J, Cordeiro D, et al., Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia 2015; 56: 707-716.
12. Lemke JR, Riesch E, Scheurenbrand T, et al., Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012; 53: 1387-1398.
13. Michaud JL, Lachance M, Hamdan FF, et al., The genetic landscape of infantile spasms. Hum Mol Genet 2014; 23: 4846-4858.
14. Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, et al., Genomic analysis identifies candidate pathogenic variants of 9 of 18 patients with unexplained West syndrome. Hum Genet 2015; 134: 649-658.
15. Belkadi A, Bolze A, Itan Y, et al., Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. Proc Natl Acad Sci USA 2015; 112: 5473-5478.