De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

American Journal of Human Genetics

Volumn 99, Issue 2, 2016, Pages 287-298

  Myers, Candace T ^a   McMahon, Jacinta M ^a   Schneider, Amy L ^a   Petrovski, Slavé ^a   Allen, Andrew S ^a   Carvill, Gemma L ^a   Zemel, Matthew ^a   Saykally, Julia E ^a   LaCroix, Amy J ^a   Heinzen, Erin L ^a   Hollingsworth, Georgina ^a   Nikanorova, Marina ^a   Corbett, Mark ^a   Gecz, Jozef ^a   Coman, David ^a   Freeman, Jeremy ^a   Calvert, Sophie ^a   Gill, Deepak ^a   Carney, Patrick ^a   Lerman Sagie, Tally ^a   Sampaio, Hugo ^a   Cossette, Patrick ^a   Delanty, Norman ^a   Dlugos, Dennis ^a   Eichler, Evan E ^a   Epstein, Michael P ^a   Glauser, Tracy ^a   Johnson, Michael R ^a   Kuzniecky, Ruben ^a   Marson, Anthony G ^a   O'Brien, Terence J ^a   Ottman, Ruth ^a   Petrou, Stephen ^a   Poduri, Annapurna ^a   Pickrell, William O ^a   Chung, Seo Kyung ^a   Rees, Mark I ^a   Sherr, Elliott ^a   Sadleir, Lynette G ^a   Goldstein, David B ^a   Lowenstein, Daniel H ^a   Møller, Rikke S ^a   Berkovic, Samuel F ^a   Scheffer, Ingrid E ^a   Mefford, Heather C ^a   more..

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA3; ALG13 PROTEIN; CACNA1A PROTEIN; DNM1 PROTEIN; EXCITATORY AMINO ACID TRANSPORTER 2; GNAO1 PROTEIN; IQSEC2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; VIGABATRIN; 4 AMINOBUTYRIC ACID A RECEPTOR; ALG13 PROTEIN, HUMAN; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL; GABRB3 PROTEIN, HUMAN; GLUTAMATE TRANSPORTER; GNAO1 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN; IQSEC2 PROTEIN, HUMAN; N ACETYLGLUCOSAMINYLTRANSFERASE; SLC1A2 PROTEIN, HUMAN;

ADULT; ARTICLE; ATAXIA; ATHETOSIS; CEREBRAL PALSY; CHROMOSOME 16; COGNITIVE DEFECT; COHORT ANALYSIS; DIAGNOSTIC VALUE; DROP ATTACK; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; EXTRACELLULAR SPACE; FEBRILE CONVULSION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GROWTH DISORDER; HUMAN; INFANT; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MISSENSE MUTATION; MOSAICISM; MOTOR DYSFUNCTION; MYOCLONUS SEIZURE; NEWBORN; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; NYSTAGMUS; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SIBLING; SOMATIC MUTATION; SPIKE WAVE; STRABISMUS; TONIC CLONIC SEIZURE; TONIC SEIZURE; TREMOR; X CHROMOSOME; ADOLESCENT; ALLELE; CASE REPORT; EPILEPSY; GENETICS; MUTATION; PATHOLOGY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ALLELES; CALCIUM CHANNELS; CHILD, PRESCHOOL; COHORT STUDIES; EPILEPSY; FEMALE; GLUTAMATE PLASMA MEMBRANE TRANSPORT PROTEINS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOSAICISM; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; RECEPTORS, GABA-A; SEIZURES;

EID: 84993894910     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.003     Document Type: Article

References (29)

1. 1 Allen, A.S., Berkovic, S.F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E.E., Epstein, M.P., Glauser, T., Goldstein, D.B., Han, Y., et al. Epi4K Consortium, Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 501 (2013), 217–221.
2. 2 EuroEPINOMICS-RES Consortium Epilepsy Phenome/Genome Project, Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am. J. Hum. Genet. 95 (2014), 360–370.
3. 3 Nakamura, K., Kodera, H., Akita, T., Shiina, M., Kato, M., Hoshino, H., Terashima, H., Osaka, H., Nakamura, S., Tohyama, J., et al. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am. J. Hum. Genet. 93 (2013), 496–505.
4. 4 Petrovski, S., Wang, Q., Heinzen, E.L., Allen, A.S., Goldstein, D.B., Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet., 9, 2013, e1003709.
5. 5 Carvill, G.L., Heavin, S.B., Yendle, S.C., McMahon, J.M., O'Roak, B.J., Cook, J., Khan, A., Dorschner, M.O., Weaver, M., Calvert, S., et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat. Genet. 45 (2013), 825–830.
6. 6 Carvill, G.L., Regan, B.M., Yendle, S.C., O'Roak, B.J., Lozovaya, N., Bruneau, N., Burnashev, N., Khan, A., Cook, J., Geraghty, E., et al. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat. Genet. 45 (2013), 1073–1076.
7. 7 Mefford, H.C., Yendle, S.C., Hsu, C., Cook, J., Geraghty, E., McMahon, J.M., Eeg-Olofsson, O., Sadleir, L.G., Gill, D., Ben-Zeev, B., et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann. Neurol. 70 (2011), 974–985.
8. 8 Carvill, G.L., McMahon, J.M., Schneider, A., Zemel, M., Myers, C.T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., et al., EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am. J. Hum. Genet. 96 (2015), 808–815.
9. 9 Reutens, D.C., Howell, R.A., Gebert, K.E., Berkovic, S.F., Validation of a questionnaire for clinical seizure diagnosis. Epilepsia 33 (1992), 1065–1071.
10. 10 Berg, A.T., Berkovic, S.F., Brodie, M.J., Buchhalter, J., Cross, J.H., van Emde Boas, W., Engel, J., French, J., Glauser, T.A., Mathern, G.W., et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51 (2010), 676–685.
11. 11 Samocha, K.E., Robinson, E.B., Sanders, S.J., Stevens, C., Sabo, A., McGrath, L.M., Kosmicki, J.A., Rehnström, K., Mallick, S., Kirby, A., et al. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46 (2014), 944–950.
12. 12 Bagnall, R.D., Crompton, D.E., Petrovski, S., Lam, L., Cutmore, C., Garry, S.I., Sadleir, L.G., Dibbens, L.M., Cairns, A., Kivity, S., et al. Exome-based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy. Ann. Neurol. 79 (2016), 522–534.
13. 13 Kim, K., Lee, S.G., Kegelman, T.P., Su, Z.Z., Das, S.K., Dash, R., Dasgupta, S., Barral, P.M., Hedvat, M., Diaz, P., et al. Role of excitatory amino acid transporter-2 (EAAT2) and glutamate in neurodegeneration: opportunities for developing novel therapeutics. J. Cell. Physiol. 226 (2011), 2484–2493.
14. 14 Dimassi, S., Labalme, A., Ville, D., Calender, A., Mignot, C., Boutry-Kryza, N., de Bellescize, J., Rivier-Ringenbach, C., Bourel-Ponchel, E., Cheillan, D., et al. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clin. Genet. 89 (2016), 198–204 Published online July 30, 2015.
15. 15 Smith-Packard, B., Myers, S.M., Williams, M.S., Girls with seizures due to the c.320A>G variant in ALG13 do not show abnormal glycosylation pattern on standard testing. JIMD Rep. 22 (2015), 95–98.
16. 16 de Ligt, J., Willemsen, M.H., van Bon, B.W., Kleefstra, T., Yntema, H.G., Kroes, T., Vulto-van Silfhout, A.T., Koolen, D.A., de Vries, P., Gilissen, C., et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367 (2012), 1921–1929.
17. 17 Shoubridge, C., Tarpey, P.S., Abidi, F., Ramsden, S.L., Rujirabanjerd, S., Murphy, J.A., Boyle, J., Shaw, M., Gardner, A., Proos, A., et al. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat. Genet. 42 (2010), 486–488.
18. 18 McTague, A., Howell, K.B., Cross, J.H., Kurian, M.A., Scheffer, I.E., The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol 15 (2016), 304–316 Published online November 17, 2015.
19. 19 Tanaka, K., Watase, K., Manabe, T., Yamada, K., Watanabe, M., Takahashi, K., Iwama, H., Nishikawa, T., Ichihara, N., Kikuchi, T., et al. Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1. Science 276 (1997), 1699–1702.
20. 20 Colton, C.K., Kong, Q., Lai, L., Zhu, M.X., Seyb, K.I., Cuny, G.D., Xian, J., Glicksman, M.A., Lin, C.L., Identification of translational activators of glial glutamate transporter EAAT2 through cell-based high-throughput screening: an approach to prevent excitotoxicity. J. Biomol. Screen. 15 (2010), 653–662.
21. 21 Kong, Q., Chang, L.C., Takahashi, K., Liu, Q., Schulte, D.A., Lai, L., Ibabao, B., Lin, Y., Stouffer, N., Das Mukhopadhyay, C., et al. Small-molecule activator of glutamate transporter EAAT2 translation provides neuroprotection. J. Clin. Invest. 124 (2014), 1255–1267.
22. 22 Hamdan, F.F., Srour, M., Capo-Chichi, J.M., Daoud, H., Nassif, C., Patry, L., Massicotte, C., Ambalavanan, A., Spiegelman, D., Diallo, O., et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet., 10, 2014, e1004772.
23. 23 Papandreou, A., McTague, A., Trump, N., Ambegaonkar, G., Ngoh, A., Meyer, E., Scott, R.H., Kurian, M.A., GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. Dev. Med. Child Neurol. 58 (2015), 416–420 Published online December 9, 2015.
24. 24 Auvin, S., Holder-Espinasse, M., Lamblin, M.D., Andrieux, J., Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia 50 (2009), 2501–2503.
25. 25 Damaj, L., Lupien-Meilleur, A., Lortie, A., Riou, E., Ospina, L.H., Gagnon, L., Vanasse, C., Rossignol, E., CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. Eur. J. Hum. Genet. 23 (2015), 1505–1512.
26. 26 Hino-Fukuyo, N., Kikuchi, A., Arai-Ichinoi, N., Niihori, T., Sato, R., Suzuki, T., Kudo, H., Sato, Y., Nakayama, T., Kakisaka, Y., et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum. Genet. 134 (2015), 649–658.
27. 27 Kong, A., Frigge, M.L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S.A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature 488 (2012), 471–475.
28. 28 Xu, X., Yang, X., Wu, Q., Liu, A., Yang, X., Ye, A.Y., Huang, A.Y., Li, J., Wang, M., Yu, Z., et al. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo” SCN1A Mutations in Children with Dravet Syndrome. Hum. Mutat. 36 (2015), 861–872.
29. 29 Porreca, G.J., Zhang, K., Li, J.B., Xie, B., Austin, D., Vassallo, S.L., LeProust, E.M., Peck, B.J., Emig, C.J., Dahl, F., et al. Multiplex amplification of large sets of human exons. Nat. Methods 4 (2007), 931–936.