High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Brain and Development

Volumn 38, Issue 3, 2016, Pages 285-292

  Kobayashi, Yu ^a   Tohyama, Jun ^a,b   Kato, Mitsuhiro ^c,d   Akasaka, Noriyuki ^a   Magara, Shinichi ^a   Kawashima, Hideshi ^a   Ohashi, Tsukasa ^a   Shiraishi, Hideaki ^e   Nakashima, Mitsuko ^f   Saitsu, Hirotomo ^f   Matsumoto, Naomichi ^f  

^a NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^b NIIGATA UNIVERSITY MEDICAL AND DENTAL HOSPITAL   (Japan)

^c YAMAGATA UNIVERSITY   (Japan)

^d SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Epileptic encephalopathy; Hand stereotype; Hyperkinetic movement; Involuntary movement; West syndrome; Whole exome sequencing

Indexed keywords

CLOBAZAM; CORTICOTROPIN; LAMOTRIGINE; METHYL CPG BINDING PROTEIN 2; POTASSIUM CHANNEL KCNQ2; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.6; STIRIPENTOL; CDKL5 PROTEIN, HUMAN; GRIN1 PROTEIN, HUMAN; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NERVE PROTEIN; PROTEIN SERINE THREONINE KINASE; SCN2A PROTEIN, HUMAN;

ARTICLE; BRAIN DISEASE; CHOREA; CLINICAL ARTICLE; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DYSKINESIA; DYSTONIA; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EPILEPSY; EPILEPTIC STATE; EXOME; FEMALE; FOCAL EPILEPSY; GENE MUTATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN CELL; HYPERKINESIA; HYPSARRHYTHMIA; INFANT; INFANT DISEASE; INFANTILE SPASM; INTRON; INVOLUNTARY MOVEMENT; MALE; MOTOR DYSFUNCTION; MYOCLONUS; MYOCLONUS SEIZURE; NONSENSE MEDIATED MRNA DECAY; PREVALENCE; BRAIN; CHILD; DNA SEQUENCE; ELECTROENCEPHALOGRAPHY; GENETIC PREDISPOSITION; GENETICS; MOVEMENT (PHYSIOLOGY); MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

BRAIN; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MOVEMENT; MOVEMENT DISORDERS; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; NERVE TISSUE PROTEINS; PREVALENCE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, N-METHYL-D-ASPARTATE; SEQUENCE ANALYSIS, DNA; SPASMS, INFANTILE;

EID: 84958165421     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2015.09.011     Document Type: Article

References (42)

1. Berg A.T., Berkovic S.F., Brodie M.J., Buchhalter J., Cross J.H., van Emde Boas 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 2010, 51:676-685.
2. Sharma S., Prasad A.N. Genetic testing of epileptic encephalopathies of infancy: an approach. Can J Neurol Sci 2013, 40:10-16.
3. Strømme P., Mangelsdorf M.E., Scheffer I.E., Gécz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 2002, 24:266-268.
4. Kato M., Das S., Petras K., Sawaishi Y., Dobyns W.B. Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology 2003, 61:267-276.
5. Kalscheuer V.M., Tao J., Donnelly A., Hollway G., Schwinger E., Kübart S., et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003, 72:1401-1411.
6. Kato M., Saitoh S., Kamei A., Shiraishi H., Ueda Y., Akasaka M., et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007, 81:361-366.
7. Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008, 40:782-788.
8. Mastrangelo M., Leuzzi V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol 2012, 46:24-31.
9. Kamien B.A., Cardamone M., Lawson J.A., Sachdev R. A genetic diagnostic approach to infantile epileptic encephalopathies. J Clin Neurosci 2012, 19:934-941.
10. Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C., Steiner I., et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012, 53:1387-1398.
11. Guerrini R., Moro F., Kato M., Barkovich A.J., Shiihara T., McShane M.A., et al. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology 2007, 69:427-433.
12. Kanazawa K., Kumada S., Kato M., Saitsu H., Kurihara E., Matsumoto N. Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene. Mov Disord 2010, 25:2265-2267.
13. Deprez L., Weckhuysen S., Holmgren P., Suls A., Van Dyck T., Goossens D., et al. Clinical spectrum of early-onset epileptic encephalopaties associated with STXBP1 mutations. Neurology 2010, 75:1159-1165.
14. Mignot C., Moutard M.L., Trouillard O., Gourfinkel-An I., Jacquette A., Arveiler B., et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011, 52:1820-1827.
15. Guerrini R., Parrini E. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia 2012, 53:2067-2078.
16. Berg A.T., Scheffer I.E. New concept in classification of the epilepsies: entering the 21st century. Epilepsia 2011, 52:1058-1062.
17. Saitsu H., Nishimura T., Muramatsu K., Kodera H., Kumada S., Sugai K., et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013, 45:445-449.
18. Saitsu H., Tohyama J., Walsh T., Kato M., Kobayashi Y., Lee M., et al. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. J Hum Genet 2014, 59:581-583.
19. Ohashi T., Akasaka N., Kobayashi Y., Magara S., Kawashima H., Matsumoto N., et al. Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. Epileptic Disord 2014, 16:208-212.
20. Ohba C., Shiina M., Tohyama J., Haginoya K., Lerman-Sagie T., Okamoto N., et al. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia 2015, 56:841-848.
21. Saitsu H., Kato M., Okada I., Orii K.E., Higuchi T., Hoshino H., et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 2010, 51:2397-2405.
22. Nakamura K., Kato M., Osaka H., Yamashita S., Nakagawa E., Haginoya K., et al. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013, 81:992-998.
23. Liang J.S., Shimojima K., Takayama R., Natsume J., Shichiji M., Hirasawa K., et al. CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 2011, 52:1835-1842.
24. Kodera H., Kato M., Nord A.S., Walsh T., Lee M., Yamanaka G., et al. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia 2013, 54:1262-1269.
25. Allen A.S., Berkovic S.F., Cossette P., Delanty N., Dlugos D., Eichler E.E., et al. De novo mutations in epileptic encephalopathies. Nature 2013, 501:217-221.
26. Veeramah K.R., Johnstone L., Karafet T.M., Wolf D., Sprissler R., Salogiannis J., et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013, 54:1270-1281.
27. Michaud J.L., Lachance M., Hamdan F.F., Carmant L., Lortie A., Diadori P., et al. The genetic landscape of infantile spasms. Hum Mol Genet 2014, 23:4846-4858.
28. Martin H.C., Kim G.E., Pagnamenta A.T., Murakami Y., Carvill G.L., Meyer E., et al. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet 2014, 23:3200-3211.
29. Goldman S., Wang C., Salgado M.W., Greene P.E., Kim M., Rapin I. Motor stereotypies in children with autism and other developmental disorders. Dev Med Child Neurol 2008, 51:30-38.
30. Kortüm F., Das S., Flindt M., Morris-Rosendahl D.J., Stefanova I., Goldstein A., et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011, 48:396-406.
31. Sukhudyan B.G., Dimova P.S., Capuano A., Vigevano F. Dyskinesia as a new adverse effect of hormonal treatment in West syndrome. Epileptic Disord 2014, 16:5-12.
32. Nakamura K., Kodera H., Akita T., Shiina M., Kato M., Hoshino H., et al. De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet 2013, 93:496-505.
33. Timal S., Hoischen A., Lehle L., Adamowicz M., Huijben K., Sykut-Cegielska J., et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 2012, 21:4151-4161.
34. de Ligt J., Willemsen M.H., van Bon B.W.M., Kleefstra T., Yntema H.G., Kroes T., et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012, 367:1921-1929.
35. Heron S.E., Crossland K.M., Andermann E., Phillips H.A., Hall A.J., Bleasel A., et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002, 360:851-852.
36. II gene SCN2A in intractable epilepsies. Neurology 2009, 73:1046-1053.
37. Hirose S., Scheffer I.E., Marini C., De Jonghe P., Andermann E., Goldman A.M., et al. SCN1A testing for epilepsy: application in clinical practice. Epilepsia 2013, 54:946-952.
38. O'Roak B.J., Vives L., Girirajan S., Karakoc E., Krumm N., Coe B.P., et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
39. O'Roak B.J., Vives L., Fu W., Egertson J.D., Stanaway I.B., Phelps I.G., et al. Multiple targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012, 338:1619-1622.
40. Hamdan F.F., Gauthier J., Araki Y., Lin D.T., Yoshizawa Y., Higashi K., et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 2011, 88:306-316.
41. Grozeva D., Carss K., Spasic-Boskovic O., Parker M.J., Archer H., Firth H.V., et al. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. Am J Hum Genet 2014, 94:618-624.
42. Sikkema-Raddatz B., Johansson L.F., de Boer E.N., Almomani R., Boven L.G., van den Berg M.P., et al. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat 2013, 34:1035-1042.