Pediatric epilepsy genetics

Current Opinion in Neurology

Volumn 26, Issue 2, 2013, Pages 137-145

  Pandolfo, Massimo ^a  

^a ERASME HOSPITAL   (Belgium)

Author keywords

brain development; epilepsy; genetics; ion channel; synaptic communication

Indexed keywords

AUTISM; BRAIN DEVELOPMENT; CHILDHOOD DISEASE; CHROMOSOME ABERRATION; COMORBIDITY; COPY NUMBER VARIATION; DNA SEQUENCE; FEBRILE CONVULSION; FOCAL EPILEPSY; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENERALIZED EPILEPSY; GENETICS; HUMAN; INTELLECTUAL IMPAIRMENT; METABOLIC DISORDER; MOTOR DYSFUNCTION; NERVE EXCITABILITY; NEUROPATHOLOGY; NEUROPSYCHIATRY; NONHUMAN; PEDIATRIC EPILEPSY; PHAKOMATOSIS; PHENOTYPE; REVIEW; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SYNAPTIC TRANSMISSION; TEMPORAL LOBE EPILEPSY; TONIC CLONIC SEIZURE;

CHILD; EPILEPSIES, MYOCLONIC; EPILEPSY; HUMANS;

EID: 84874932758     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32835f19da     Document Type: Review

References (69)

1. Pandolfo M. Genetics of epilepsy. Semin Neurol 2011; 31:506-518.
2. Mitchell KJ. The genetics of neurodevelopmental disease. Curr Opin Neurobiol 2011; 21:197-203.
3. Brooks-Kayal A. Epilepsy and autism spectrum disorders: are there common developmental mechanisms? Brain Dev 2010; 32:731-738.
4. Dubé CM, Brewster AL, Baram TZ. Febrile seizures: mechanisms and relationship to epilepsy. Brain Dev 2009; 31:366-371.
5. Audenaert D, Van Broeckhoven C, De Jonghe P. Genes and loci involved in febrile seizures and related epilepsy syndromes. Hum Mutat 2006; 27:391-401. (Pubitemid 43673324)
6. Wallace RH, Wang D-W, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na\+-channel beta1 subunit gene SCN1B. Nat Genet 1998; 19:366-370. (Pubitemid 28357909)
7. Scheffer IE, Harkin LA, Grinton BE, et al. Temporal lobe epilepsy and GEFS\+ phenotypes associated with SCN1B mutations. Brain 2007; 130:100-109. (Pubitemid 46026226)
8. Mulley JC, Scheffer IE, Petrou S, et al. SCN1A mutations and epilepsy. Hum Mutat 2005; 25:535-542. (Pubitemid 40780987)
9. Noebels JL, Avoli M, Rogawski MA, et al. Mutated GABAA receptor subunits in idiopathic generalized epilepsy. United States: National Center for Biotechnology Information; 2012.
10. Macdonald RL, Kang J-Q. Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations. Epilepsy Curr 2009; 9:18-23.
11. Dravet C. Dravet syndrome history. Dev Med Child Neurol 2011; 53 (Suppl 2):1-6.
12. Scheffer IE. Diagnosis and long-term course of Dravet syndrome. Eur J Paediatr Neurol 2012; 16 (Suppl 1):S5-S8.
13. Claes L, Del-Favero J, Ceulemans B, et al. De novo mutations in the sodiumchannel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001; 68:1327-1332. (Pubitemid 32510608)
14. Guerrini R, Falchi M. Dravet syndrome and SCN1A gene mutation relatedepilepsies: cognitive impairment and its determinants. Dev Med Child Neurol 2011; 53 (Suppl 2):11-15.
15. 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. (Pubitemid 38380945)
16. Marini C, Scheffer IE, Nabbout R, et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009; 50:1670-1678.
17. Yu FH, Mantegazza M, Westenbroek RE, et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 2006; 9:1142-1149. (Pubitemid 44306307)
18. Martin MS, Dutt K, Papale LA, et al. Altered function of the SCN1A voltagegated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J Biol Chem 2010; 285:9823-9834.
19. Meisler MH, O'Brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol (Lond) 2010; 588:1841-1848.
20. Noebels JL, Avoli M, Rogawski MA, et al. GABAA receptor subunit mutations and genetic epilepsies. United States: National Center for Biotechnology Information; 2012.
21. Han S, Tai C, Westenbroek RE, et al. Autistic-like behaviour in Scn1a\+/-mice and rescue by enhanced GABA-mediated neurotransmission. Nature 2012; 489:385-390.
22. Otsuka M, Oguni H, Liang J-S, et al. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome: result of Japanese cohort study. Epilepsia 2010; 51:2449-2452.
23. Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr 2003; 15:567-571. (Pubitemid 37487370)
24. Cossée M, Faivre L, Philippe C, et al. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A 2011; 155A:98-105.
25. Ricciardi S, Ungaro F, Hambrock M, et al. CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nat Cell Biol 2012; 14:911-923.
26. Scala E, Ariani F, Mari F, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42:103-107. (Pubitemid 40204363)
27. Poduri A, Chopra SS, Neilan EG, et al. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia 2012; 53:e146-e150.
28. Kurian MA, Meyer E, Vassallo G, et al. Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain 2010; 133: 2964-2970.
29. Dibbens LM, Tarpey PS, Hynes K, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 2008; 40:776-781. (Pubitemid 351748867)
30. Depienne C, Trouillard O, Bouteiller D, et al. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat 2011; 32:E1959-E1975.
31. Barcia G, Fleming MR, Deligniere A, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012; 44:1255-1259.
32. Heron SE, Smith KR, Bahlo M, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 2012; 44:1188-1190.
33. Van Bogaert P, Azizieh R, Dé sir J, et al. Mutation of a potassium channelrelated gene in progressive myoclonic epilepsy. Ann Neurol 2007; 61:579-586. (Pubitemid 47068140)
34. Azizieh R, Orduz D, Van Bogaert P, et al. Progressive myoclonic epilepsyassociated gene KCTD7 is a regulator of potassium conductance in neurons. Mol Neurobiol 2011; 44:111-121.
35. Staropoli JF, Karaa A, Lim ET, et al. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet 2012; 91:202-208.
36. Novarino G, El-Fishawy P, Kayserili H, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012; 338:394-397.
37. Fassio A, Patry L, Congia S, et al. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Hum Mol Genet 2011; 20:2297-2307.
38. Endele S, Rosenberger G, Geider K, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010; 42:1021-1026.
39. Singh NA, Westenskow P, Charlier C, et al. Consortium, KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 2003; 126:2726-2737. (Pubitemid 37463091)
40. Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012; 71:15-25.
41. Chen W-J, Lin Y, Xiong Z-Q, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011; 43:1252-1255.
42. Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012; 79:2115-2121.
43. Cloarec R, Bruneau N, Rudolf G, et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 2012; 79:2097-2103.
44. Vanmolkot KRJ, Kors EE, Hottenga J-J, et al. Novel mutations in the Na\+, K\+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 2003; 54:360-366. (Pubitemid 37072038)
45. Falace A, Filipello F, La Padula V, et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet 2010; 87:365-370.
46. Corbett MA, Bahlo M, Jolly L, et al. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet 2010; 87:371-375.
47. Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004; 36:842-849. (Pubitemid 39014101)
48. de Nijs L, Wolkoff N, Coumans B, et al. Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. Hum Mol Genet 2012; 21:5106-5117.
49. Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995; 11:201-203.
50. Phillips HA, Favre I, Kirkpatrick M, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001; 68:225-231. (Pubitemid 32048378)
51. Noebels JL, Avoli M, Rogawski MA, et al. Nicotinic acetylcholine receptor mutations. United States: National Center for Biotechnology Information; 2012.
52. Bertrand D, Picard F, le Hellard S, et al. How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia 2002; 43 (Suppl 5):112-122. (Pubitemid 34864217)
53. Steinlein OK. Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures. Expert Rev Neurother 2010; 10:1859-1867.
54. Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomaldominant partial epilepsy with auditory features. Nat Genet 2002; 30:335-341.
55. Schulte U, Thumfart J-O, Klö cker N, et al. The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. Neuron 2006; 49:697-706. (Pubitemid 43290129)
56. Fukata Y, Adesnik H, Iwanaga T, et al. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 2006; 313:1792-1795. (Pubitemid 44454156)
57. Xiong L, Labuda M, Li DS, et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 1999; 65:1698-1710. (Pubitemid 30468683)
58. Berkovic SF, Serratosa JM, Phillips HA, et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 2004; 45:1054-1060. (Pubitemid 39238115)
59. Stockler-Ipsiroglu S, Plecko B. Metabolic epilepsies: approaches to a diagnostic challenge. Can J Neurol Sci 2009; 36 (Suppl 2):S67-S72.
60. MastrangeloM, Celato A, Leuzzi V. A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies. Eur J Paediatr Neurol 2012; 16:179-191.
61. Scheffer IE. GLUT1 deficiency: a glut of epilepsy phenotypes. Neurology 2012; 78:524-525.
62. Pagon RA, Bird TD, Dolan CR, et al. Glucose transporter type 1 deficiency syndrome. Seattle: University of Washington; 1993.
63. Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008; 131:1831-1844. (Pubitemid 351957463)
64. Mullen SA, Suls A, De Jonghe P, et al. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010; 75:432-440.
65. Kohrman MH. Emerging treatments in the management of tuberous sclerosis complex. Pediatr Neurol 2012; 46:267-275.
66. Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012; 135:1348-1369.
67. Mulley JC, Mefford HC. Epilepsy and the new cytogenetics. Epilepsia 2011; 52:423-432.
68. Heinzen EL, Radtke RA, Urban TJ, et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 2010; 86:707-718.
69. Alkuraya FS, Cai X, Emery C, et al. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet 2011; 88:536-547.