Towards the identification of a genetic basis for Landau-Kleffner syndrome

Epilepsia

Volumn 55, Issue 6, 2014, Pages 858-865

  Conroy, Judith ^a,b   McGettigan, Paul A ^b   McCreary, Dara ^a   Shah, Naisha ^b   Collins, Kevin ^c   Parry Fielder, Bronwyn ^c   Moran, Margaret ^a,c   Hanrahan, Donncha ^d   Deonna, Thierry W ^e   Korff, Christian M ^f   Webb, David ^g   Ennis, Sean ^b,g   Lynch, Sally A ^a,b,g   King, Mary D ^a,b  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f UNIVERSITY HOSPITAL   (Switzerland)

^g OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Candidate genes; Copy number variation; Discordant monozygotic twins; Exome sequencing; Rolandic epilepsy; Verbal auditory agnosia

Indexed keywords

ANTICONVULSIVE AGENT; ARGININE; GLUTAMIC ACID; HISTIDINE; STEROID;

ADOLESCENT; ADULT; ANTICONVULSANT THERAPY; ARTICLE; BINDING SITE; BSN GENE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EPHB2 GENE; EPILEPSY; EXOME; FEMALE; GENE; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; GRIN2A GENE; HUMAN; LANDAU KLEFFNER SYNDROME; MALE; METHYLATION; MONOZYGOTIC TWINS; NID2 GENE; OVERLAPPING GENE; PRIORITY JOURNAL; RELN GENE; SEQUENCE ANALYSIS; STEROID THERAPY; TWIN DISCORDANCE;

CANDIDATE GENES; COPY NUMBER VARIATION; DISCORDANT MONOZYGOTIC TWINS; EXOME SEQUENCING; ROLANDIC EPILEPSY; VERBAL AUDITORY AGNOSIA;

ADOLESCENT; ADULT; CELL ADHESION MOLECULES; CELL ADHESION MOLECULES, NEURONAL; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LANDAU-KLEFFNER SYNDROME; MALE; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, EPHB2; RECEPTORS, N-METHYL-D-ASPARTATE; SERINE ENDOPEPTIDASES; TWINS, MONOZYGOTIC; YOUNG ADULT;

EID: 84902362708     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12645     Document Type: Article

References (40)

1. Van Bogaert P, King MD, Paquier P, et al. Acquired auditory agnosia in childhood and normal sleep electroencephalography subsequently diagnosed as Landau-Kleffner Syndrome: a report of three cases. Dev Med Child Neurol 2013; 55: 575-579.
2. Reutlinger C, Helbig I, Gawelczyk B, et al. Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia 2010; 51: 1870-1873.
3. Lesca G, Rudolf G, Labalme A, et al. Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism. Epilepsia 2012; 53: 1526-1538.
4. Dimassi S, Labalme A, Lesca G, et al. A subset of genomic alterations in rolandic epilepsies containing candidate or known epilepsy genes including GRIN2A and PRRT2. Epilepsia 2014; 55: 370-378.
5. Carvill GL, Regan BM, Yendle SC, et al. GRIN2A mutations cause epilepsy-Aphasia spectrum disorders. Nat Genet 2013; 45: 1073-1076.
6. Lesca G, Rudolf G, Bruneau N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet 2013; 45: 1061-1066.
7. Lemke JR, Lal D, Reinthaler EM, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet 2013; 45: 1067-1072.
8. Tsai MH, Vears DF, Turner SJ, et al. Clinical genetic study of the epilepsy-Aphasia spectrum. Epilepsia 2013; 54: 280-287.
9. Arts WF, Aarsen FK, Scheltens-de Boer M, et al. Landau-Kleffner syndrome and CSWS syndrome: treatment with intravenous immunoglobulins. Epilepsia 2009; 50 (Suppl. 7): 55-58.
10. Connolly AM, Chez MG, Pestronk A, et al. Serum autoantibodies to brain in Landau-Kleffner variant, autism, and other neurologic disorders. J Pediatr 1993; 134: 607-613.
11. De Tiege X, Trotta N, Op de Beeck M, et al. Neurophysiological activity underlying altered brain metabolism in epileptic encephalopathies with CSWS. Epilepsy Res 2013; 105: 316-325.
12. Kang HC, Kim HD, Lee YM, et al. Landau-Kleffner syndrome with mitochondrial respiratory chain-complex 1 deficiency. Pediatr Neurol 2006; 35: 158-161.
13. Zeager M, Heard T, Woolf AD,. Lead poisoning in two children with Landau-Kleffner syndrome. Clin Toxicol (Phila) 2012; 50: 448.
14. Solomon GE, Carson D, Pavlakis S, et al. Intracranial EEG monitoring in Landau-Kleffner syndrome associated with left temporal lobe astrocytoma. Epilepsia 1993; 34: 557-560.
15. Huppke P, Kallenberg K, Gartner J,. Perisylvian polymicrogyria in Landau-Kleffner syndrome. Neurology 2005; 64: 1660.
16. Blum A, Tremont G, Donahue J, et al. Landau-Kleffner syndrome with lateral temporal focal cortical dysplasia and mesial temporal sclerosis: a 30-year follow up. Epilepsy Behav 2007; 10: 495-503.
17. Otero E, Cordova S, Diaz F, et al. Acquired epileptic aphasia (the Landau-Kleffner syndrome) due to neurocysticercosis. Epilepsia 1989; 30: 569-572.
18. Feekery CJ, Parry-Fielder B, Hopkins IJ,. Landau-Kleffner syndrome: six patients including discordant monozygotic twins. Pediatr Neurol 1993; 9: 49-53.
19. Scheltens-de Boer M,. Guidelines for EEG in encephalopathy related to ESES/CSWS in children. Epilepsia 2009; 50 (Suppl. 7): 13-17.
20. Wang K, Li M, Hadley D, et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007; 17: 1665-1674.
21. Bartnik M, Szczepanik E, Derwinska K, et al. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet 2012; 159B: 760-771.
22. Talens RP, Christensen K, Putter H, et al. Epigenetic variation during the adult lifespan: cross-sectional and longitudinal data on monozygotic twin pairs. Aging Cell 2012; 11: 694-703.
23. Kaga M, Inagaki M, Ohta R,. Epidemiological study of Landau-Kleffner syndrome (LKS) in Japan. Brain Dev 2014; 36: 284-286.
24. Satija M, Sharma S, Soni RK, et al. Twinning and its correlates: community-based study in a rural area of India. Hum Biol 2008; 80: 611-621.
25. Baranzini SE, Mudge J, Van Velkinburgh JC, et al. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 2010; 464: 1351-1356.
26. Weber-Lehmann J, Schilling E, Gradl G, et al. Finding the needle in the haystack: differentiating "identical" twins in paternity testing and forensics by ultra-deep next generation sequencing. Forensic Sci Int Genet 2014; 9: 42-46.
27. Furukawa H, Oka S, Matsui T, et al. Genome, epigenome and transcriptome analyses of a pair of monozygotic twins discordant for systemic lupus erythematosus. Hum Immunol 2013; 74: 170-175.
28. Burga A, Casanueva MO, Lehner B,. Predicting mutation outcome from early stochastic variation in genetic interaction partners. Nature 2011; 480: 250-253.
29. Bloom MJ, Ehrenreich IM, Loo WT, et al. Finding the sources of missing heritability in a yeast cross. Nature 2013; 494: 234-237.
30. Vasudevan A, Ho MS, Weiergraber M, et al. Basement membrane protein nidogen-1 shapes hippocampal synaptic plasticity and excitability. Hippocampus 2010; 20: 608-620.
31. Dong L, Chen Y, Lewis M, et al. Neurologic defects and selective disruption of basement membranes in mice lacking entactin-1/nidogen-1. Lab Invest 2002; 82: 617-630.
32. Zaki M, Shehab M, El-Aleem AA, et al. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A 2007; 143A: 939-944.
33. Wu Y, Wang XF, Mo XA, et al. Expression of laminin beta1 and integrin alpha2 in the anterior temporal neocortex tissue of patients with intractable epilepsy. Int J Neurosci 2011; 121: 323-328.
34. Shah S, Ellard S, Kneen R, et al. Childhood presentation of COL4A1 mutations. Dev Med Child Neurol 2012; 54: 569-574.
35. Altrock WD, Tom Dieck S, Sokolov M, et al. Functional inactivation of a fraction of excitatory synapses in mice deficient for the active zone protein bassoon. Neuron 2003; 37: 787-800.
36. Folsom TD, Fatemi SH,. The involvement of Reelin in neurodevelopmental disorders. Neuropharmacology 2013; 68: 122-135.
37. Huffman KJ, Cramer KS,. EphA4 misexpression alters tonotopic projections in the auditory brainstem. Dev Neurobiol 2007; 67: 1655-1668.
38. Miko IJ, Nakamura PA, Henkemeyer M, et al. Auditory brainstem neural activation patterns are altered in EphA4- and ephrin-B2-deficient mice. J Comp Neurol 2007; 505: 669-681.
39. Filosa A, Paixao S, Honsek SD, et al. Neuron-glia communication via EphA4/ephrin-A3 modulates LTP through glial glutamate transport. Nat Neurosci 2009; 12: 1285-1292.
40. Senturk A, Pfennig S, Weiss A, et al. Ephrin Bs are essential components of the Reelin pathway to regulate neuronal migration. Nature 2011; 472: 356-360