Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies:Position paper of the ILAE commission for classification and terminology[J]. Epilepsia, 2017, 58(4):512-521.
[2]
Ream MA, Mikati MA. Clinical utility of genetic testing in pediatric drug-resistant epilepsy:a pilot study[J]. Epilepsy Behav, 2014, 37:241-248.
[3]
Akman CI, Yu J, Alter A, et al. Diagnosing glucose transporter 1 deficiency at initial presentation facilitates early treatment[J]. J Pediatr, 2016, 171:220-226.
[4]
van Karnebeek CD, Tiebout SA, Niermeijer J, et al. Pyridoxine-dependent Epilepsy:An expanding clinical spectrum[J]. Pediatr Neurol, 2016, 59:6-12.
[5]
Vadlamudi L, Andermann E, Lombroso CT, et al. Epilepsy in twins:insights from unique historical data of William Lennox[J]. Neurology, 2004, 62(7):1127-1133.
[6]
Peljto AL, Barker-Cummings C, Vasoli VM, et al. Familial risk of epilepsy:a population-based study[J]. Brain, 2014, 137(Pt 3):795-805.
[7]
Helbig I, Heinzen EL, Mefford HC. Primer Part 1-The building blocks of epilepsy genetics[J]. Epilepsia, 2016, 57(6):861-868.
[8]
Møller RS, Dahl HA, Helbig I. The contribution of next generation sequencing to epilepsy genetics[J]. Expert Rev Mol Diagn, 2015, 15(12):1531-1538.
[9]
Olson H, Shen Y, Avallone J, et al. Copy number variation plays an important role in clinical epilepsy[J]. Ann Neurol, 2014, 75(6):943-958.
[10]
Ottman R, Hirose S, Jain S, et al. Genetic testing in the epilepsies-report of the ILAE Genetics Commission[J]. Epilepsia, 2010, 51(4):655-670.
[11]
El Achkar CM, Olson HE, Poduri A, et al. The genetics of the epilepsies[J]. Curr Neurol Neurosci Rep, 2015, 15(7):39.
[12]
Skjei KL, Dlugos DJ. The evaluation of treatment-resistant epilepsy[J]. Semin Pediatr Neurol, 2011, 18(3):150-170.
[13]
Wang J, Lin ZJ, Liu L, et al. Epilepsy-associated genes[J]. Seizure, 2017, 44:11-20.
[14]
Sisodiya SM. Genetic screening and diagnosis in epilepsy[J]. Curr Opin Neurol, 2015, 28(2):136-142.
[15]
Merwick A, O'Brien M, Delanty N. Complex single gene disorders and epilepsy[J]. Epilepsia, 2012, 53(Suppl 4):81-91.
[16]
Yip MY. Autosomal ring chromosomes in human genetic disorders[J]. Transl Pediatr, 2015, 4(2):164-174.
[17]
Conlin LK, Kramer W, Hutchinson AL, et al. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients[J]. J Med Genet, 2011, 48(1):1-9.
[18]
Zollino M, Seminara L, Orteschi D, et al. The ring 14 syndrome:clinical and molecular definition[J]. Am J Med Genet A, 2009, 149A(6):1116-1124.
[19]
Torres F, Barbosa M, Maciel P. Recurrent copy number variations as risk factors for neurodevelopmental disorders:critical overview and analysis of clinical implications[J]. J Med Genet, 2016, 53(2):73-90.
[20]
Sorge G, Sorge A. Epilepsy and chromosomal abnormalities[J]. Ital J Pediatr, 2010, 36:36.
[21]
Epilepsy Phenome/Genome Project Epi4K Consortium. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy[J]. Ann Neurol, 2015, 78(2):323-328.
[22]
de Kovel CG, Trucks H, Helbig I, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies[J]. Brain, 2010, 133(Pt 1):23-32.
[23]
Jähn JA, von Spiczak S, Muhle H, et al. Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies[J]. Epilepsy Res, 2014, 108(1):109-116.
[24]
Helbig I, Swinkels ME, Aten E, et al. Structural genomic variation in childhood epilepsies with complex phenotypes[J]. Eur J Hum Gene, 2014, 22(7):896-901.
[25]
Wincent J, Kolbjer S, Martin D, et al. Copy number variations in children with brain malformations and refractory epilepsy[J]. Am J Med Genet A, 2015, 167A(3):512-523.
[26]
Lal D, Ruppert AK, Trucks H, et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies[J]. PLoS Genet, 2015, 11(5):e1005226.
[27]
Helbig I, Mefford HC, Sharp AJ, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy[J]. Nat Genet, 2009, 41(2):160-162.
[28]
Mefford HC, Yendle SC, Hsu C, et al. Rare copy number variants are an important cause of epileptic encephalopathies[J]. Ann Neurol, 2011, 70(6):974-985.
[29]
Poduri A, Sheidley BR, Shostak S, et al. Genetic testing in the epilepsies-developments and dilemmas[J]. Nat Rev Neurol, 2014, 10(5):293-299.
[30]
Avanzini G, Mantegazza M, Terragni B, et al. The impact of genetic and experimental studies on classification and therapy of the epilepsies[J]. Neurosci Lett, 2017, S0304-3940(17):30414-30417.
