Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

Epilepsia

Volumn 54, Issue 5, 2013, Pages

  Touma, Marlin ^a   Joshi, Mugdha ^a   Connolly, Meghan C ^a   Ellen Grant, P ^a   Hansen, Anne R ^a   Khwaja, Omar ^b   Berry, Gerard T ^a   Kinney, Hannah C ^a   Poduri, Annapurna ^c   Agrawal, Pankaj B ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b F HOFFMANN LA ROCHE LTD   (Switzerland)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Ohtahara syndrome; SCN2A; Seizures; Whole genome sequencing

Indexed keywords

DNA; ETIRACETAM; LAMOTRIGINE; PHENOBARBITAL; TOPIRAMATE; VIGABATRIN;

ARTICLE; BASAL GANGLION; BRAIN DISEASE; BRAIN METABOLISM; BRAIN STEM; CASE REPORT; CONTROLLED STUDY; DENTATE GYRUS; DENTATE OLIVARY DYSPLASIA; DNA SEQUENCE; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GRANULE CELL; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MALE; MEDICAL RECORD REVIEW; MONOZYGOTIC TWINS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; PRIORITY JOURNAL; SODIUM CHANNEL NAV1.2 GENE;

BRAIN; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENOME, HUMAN; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE; SYNDROME; TWINS, MONOZYGOTIC;

EID: 84876917947     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12137     Document Type: Article

References (12)

1. Blumcke I, Kistner I, Clusmann H, Schramm J, Becker AJ, Elger CE, Bien CG, Merschhemke M, Meencke HJ, Lehmann T, Buchfelder M, Weigel D, Buslei R, Stefan H, Pauli E, Hildebrandt M,. (2009) Towards a clinico-pathological classification of granule cell dispersion in human mesial temporal lobe epilepsies. Acta Neuropathol 117: 535-544.
2. Harding BN, Boyd SG,. (1991) Intractable seizures from infancy can be associated with dentato-olivary dysplasia. J Neurol Sci 104: 157-165.
3. Kearney JA, Yang Y, Beyer B, Bergren SK, Claes L, Dejonghe P, Frankel WN,. (2006) Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Hum Mol Genet 15: 1043-1048.
4. Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE,. (2010) SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 75: 1454-1458.
5. Martinez-Hernandez J, Ballesteros-Merino C, Fernandez-Alacid L, Nicolau JC, Aguado C, Lujan R,. (2013) Polarised localisation of the voltage-gated sodium channel Na(v)1.2 in cerebellar granule cells. Cerebellum 12: 16-26.
6. Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB,. (2012) Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet 49: 353-361.
7. Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K,. (2009) De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology 73: 1046-1053.
8. Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM,. (2012) Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380: 1674-1682.
9. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Gunel M, Roeder K, Geschwind DH, Devlin B, State MW,. (2012) De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485: 237-241.
10. Simao GN, Zarei Mahmoodabadi S, Snead OC, Go C, Widjaja E,. (2011) Abnormal axial diffusivity in the deep gray nuclei and dorsal brain stem in infantile spasm treated with vigabatrin. AJNR Am J Neuroradiol 32: 199-203.
11. Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF,. (2012) De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 90: 502-510.
12. Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, Peter de J,. (2012) KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 71: 15-25.