Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Epilepsia

Volumn 55, Issue 4, 2014, Pages

  Baasch, Anna Lena ^a   Hüning, Irina ^a   Gilissen, Christian ^b   Klepper, Joerg ^c   Veltman, Joris A ^b   Gillessen Kaesbach, Gabriele ^a   Hoischen, Alexander ^b   Lohmann, Katja ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c KLINIKUM ASCHAFFENBURG   (Germany)

Author keywords

Epilepsy; Epileptic encephalopathy; Intellectual disability; Rett like syndrome; Sodium channel

Indexed keywords

ETIRACETAM; FOLIC ACID; PHENOBARBITAL; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; SODIUM CHANNEL NAV1.2; STEROID; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; SCN2A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANTIBIOTIC THERAPY; ARTICLE; ATROPHY; BIRTH WEIGHT; BRAIN CALCIFICATION; BRAIN MALFORMATION; BRAIN RADIOGRAPHY; CARDIOTOCOGRAPHY; CEREBROSPINAL FLUID; CESAREAN SECTION; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORPUS CALLOSUM; CYANOSIS; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EXOME; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; HAND MOVEMENT; HUMAN; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; KETOGENIC DIET; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NEWBORN PERIOD; NEWBORN SEPSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPISTHOTONUS; OPTIC NERVE ATROPHY; PATHOGENICITY; PHENOTYPE; PREGNANCY; PRIORITY JOURNAL; SPIKE WAVE; THERMOREGULATION; TONIC CLONIC SEIZURE; BRAIN; CASE REPORT; COMPLICATION; GENETICS; INTELLECTUAL DISABILITY; OPTIC ATROPHY; PRESCHOOL CHILD; SEIZURES;

BRAIN; CHILD, PRESCHOOL; EXOME; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MUSCLE HYPOTONIA; MUTATION, MISSENSE; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; OPTIC ATROPHY; PHENOTYPE; SEIZURES;

EID: 84899474229     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12554     Document Type: Article

References (29)

1. Oliva M, Berkovic SF, Petrou S,. Sodium channels and the neurobiology of epilepsy. Epilepsia 2012; 53: 1849-1859.
2. Mizielinska SM,. Ion channels in epilepsy. Biochem Soc Trans 2007; 35: 1077-1079.
3. Abecasis GR, Altshuler D, Auton A, et al. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073.
4. Ku CS, Tan EK, Cooper DN,. From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease. J Med Genet 2013; 50: 203-211.
5. Veltman JA, Brunner HG,. De novo mutations in human genetic disease. Nat Rev Genet 2012; 13: 565-575.
6. Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674-1682.
7. Veeramah KR, Johnstone L, Karafet TM, et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013; 54: 1270-1281.
8. Vissers LE, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet 2010; 42: 1109-1112.
9. Kasten M, Hagenah J, Graf J, et al. Cohort Profile: a population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK). Int J Epidemiol 2013; 42: 128-128k.
10. Sanders SJ, Murtha MT, Gupta AR, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485: 237-241.
11. Carvill GL, Heavin SB, Yendle SC, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013; 45: 825-830.
12. Kamiya K, Kaneda M, Sugawara T, et al. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 2004; 24: 2690-2698.
13. Sugawara T, Tsurubuchi Y, Agarwala KL, et al. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A 2001; 98: 6384-6389.
14. Lemke JR, Riesch E, Scheurenbrand T, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012; 53: 1387-1398.
15. Berkovic SF, Heron SE, Giordano L, et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 2004; 55: 550-557.
16. Liao Y, Deprez L, Maljevic S, et al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 2010; 133: 1403-1414.
17. Liao Y, Anttonen AK, Liukkonen E, et al. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 2010; 75: 1454-1458.
18. Touma M, Joshi M, Connolly MC, et al. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia 2013; 54: e81-85.
19. Shi X, Yasumoto S, Nakagawa E, et al. Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev 2009; 31: 758-762.
20. Herlenius E, Heron SE, Grinton BE, et al. SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia 2007; 48: 1138-1142.
21. Ogiwara I, Ito K, Sawaishi Y, et al. De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology 2009; 73: 1046-1053.
22. Wang JW, Shi XY, Kurahashi H, et al. Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. Epilepsy Res 2012; 102: 195-200.
23. Striano P, Bordo L, Lispi ML, et al. A novel SCN2A mutation in family with benign familial infantile seizures. Epilepsia 2006; 47: 218-220.
24. Kobayashi K, Ohzono H, Shinohara M, et al. Acute encephalopathy with a novel point mutation in the SCN2A gene. Epilepsy Res 2012; 102: 109-112.
25. Heron SE, Crossland KM, Andermann E, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002; 360: 851-852.
26. de Ligt J, Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012; 367: 1921-1929.
27. Need AC, Shashi V, Hitomi Y, et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet 2012; 49: 353-361.
28. Zara F, Specchio N, Striano P, et al. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013; 54: 425-436.
29. Haug K, Hallmann K, Rebstock J, et al. The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy. Epilepsy Res 2001; 47: 243-246.