Co-occurring malformations of cortical development and SCN1A gene mutations

Epilepsia

Volumn 55, Issue 7, 2014, Pages 1009-1019

  Barba, Carmen ^a   Parrini, Elena ^a   Coras, Roland ^b   Galuppi, Anna ^a   Craiu, Dana ^c   Kluger, Gerhard ^d,e   Parmeggiani, Antonia ^f   Pieper, Tom ^d   Schmitt Mechelke, Thomas ^g   Striano, Pasquale ^h   Giordano, Flavio ^a   Blumcke, Ingmar ^b   Guerrini, Renzo ^a,i  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^c Alexandru Obregia Psychiatric Hospital Bucharest   (Romania)

^d Epilepsy Center   (Germany)

^e PARACELSUS MEDICAL UNIVERSITY   (Austria)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g Department of Neuropediatrics Pediatric Hospital   (Switzerland)

^h UNIVERSITY OF GENOA   (Italy)

ⁱ DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Dravet syndrome; Focal cortical dysplasia; Malformation of cortical development; Periventricular nodular heterotopia; SCN1A mutations

Indexed keywords

ANTICONVULSIVE AGENT; SODIUM CHANNEL NAV1.1;

ADOLESCENT; ARTICLE; AUTISM; BRAIN DAMAGE; BRAIN DISEASE; CARDIOPULMONARY INSUFFICIENCY; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; COMPLEX PARTIAL SEIZURE; CORTICAL DYSPLASIA; DISEASE COURSE; DYSPLASIA; ELECTROGRAPHY; FAMILY HISTORY; FEMALE; FEVER; GENE MUTATION; GENE SEQUENCE; HIPPOCAMPAL SCLEROSIS; HUMAN; MALE; MISSENSE MUTATION; MULTIPLE ORGAN FAILURE; NEUROLOGIC DISEASE; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SUDDEN DEATH; TEMPORAL LOBE DYSPLASIA; TREATMENT OUTCOME;

DRAVET SYNDROME; FOCAL CORTICAL DYSPLASIA; MALFORMATION OF CORTICAL DEVELOPMENT; PERIVENTRICULAR NODULAR HETEROTOPIA; SCN1A MUTATIONS;

ADOLESCENT; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; EPILEPSY; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; RNA SPLICE SITES;

EID: 84904403794     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12658     Document Type: Article

References (45)

1. Dravet C, Bureau M, Oguni H, et al. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol 2005; 95: 71-102.
2. 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.
3. Dravet C,. The core Dravet syndrome phenotype. Epilepsia 2011; 52 (Suppl. 2): 3-9.
4. Guerrini R,. Dravet syndrome: the main issues. Eur J Paediatr Neurol 2012; 16 (Suppl. 1): 1-4.
5. Siegler Z, Barsi P, Neuwirth M, et al. Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study. Epilepsia 2005; 46: 704-708.
6. Striano P, Mancardi MM, Biancheri R, et al. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia 2007; 48: 1092-1096.
7. Akiyama M, Kobayashi K, Yoshinaga H, et al. A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia 2010; 51: 1043-1052.
8. Catarino CB, Liu JY, Liagkouras I, et al. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 2011; 134: 2982-3010.
9. Guerrini R, Striano P, Catarino C, et al. Neuroimaging and neuropathology of Dravet syndrome. Epilepsia 2011; 52 (Suppl. 2): 30-34.
10. Gaily E, Anttonen AK, Valanne L, et al. Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. Epilepsia 2013; 54: 1577-1585.
11. Van Poppel K, Patay Z, Roberts D, et al. Mesial temporal sclerosis in a cohort of children with SCN1A gene mutation. J Child Neurol 2012; 27: 893-897.
12. Le Gal F, Korff CM, Monso-Hinard C, et al. A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation. Epilepsia 2010; 51: 1915-1918.
13. Rosenow F, Lüders H,. Presurgical evaluation of epilepsy. Review. Brain 2001; 124: 1683-1700.
14. Widdess-Walsh P, Diehl B, Najm I,. Neuroimaging of focal cortical dysplasia. J Neuroimaging 2006; 16: 185-196.
15. Guerrini R, Dobyns WB, Barkovich AJ,. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci 2008; 31: 154-162.
16. Colombo N, Salamon N, Raybaud C, et al. Imaging of malformations of cortical development. Epileptic Disord 2009; 11: 194-205.
17. 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.
18. Huntley M,. The Griffiths Mental Developmental Scales. Manual from birth to two years. Thames: Bucks: Association for research in infant and child development, The Test Agency, 1996: 5-39.
19. Bayley N,. Bayley scales of infant and toddler development. 3rd ed. San Antonio, TX: Harcourt Assessment; 2006.
20. Wechsler D,. Wechsler preschool and primary scale of intelligence-III. London: Pearson Assessment; 2002.
21. Wechsler D,. Wechsler intelligence scale for children. 4th ed. London: Pearson Assessment; 2003.
22. Frankenburg WK, Dobbs JB,. The Denver Developmental Screening Test. The Journal of Pediatrics 1967; 71: 181-191.
23. Engel J Jr, Van Ness PC, Rasmussen TB, et al. Outcome with respect to epileptic seizures. In, Engel J, (Ed) Surgical treatment of the epilepsies. 2nd ed. New York, NY: Raven, 1993: 609-621.
24. Blümcke I, Thom M, Aronica E, et al. The clinicopathologic spectrum of focal cortical dysplasias: a con-sensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011; 52: 158-174.
25. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003; 126: 531-546.
26. Depienne C, Trouillard O, Gourfinkel-An I, et al. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet 2010; 47: 404-410.
27. Rodda JM, Scheffer IE, McMahon JM, et al. Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol 2012; 69: 873-878.
28. Carranza Rojo D, Hamiwka L, McMahon JM, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 2011; 77: 380-383.
29. Zuberi SM, Brunklaus A, Birch R, et al. Genotype-phenotype asso-ciations in SCN1A-related epilepsies. Neurology 2011; 76: 594-600.
30. Rahman M, Friedman WA,. Hyponatremia in neurosurgical patients: clinical guidelines development. Neurosurgery 2009; 65: 925-935.
31. Li LM, Dubeau F, Andermann F, et al. Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection. Ann Neurol 1997; 41: 662-668.
32. Tassi L, Colombo N, Cossu M, et al. Electroclinical, MRI and neuropathological study of 10 patients with nodular heterotopia, with surgical outcomes. Brain 2005; 128: 321-337.
33. Scherer C, Schuele S, Minotti L, et al. Intrinsic epileptogenicity of an isolated periventricular nodular heterotopia. Neurology 2005; 65: 495-496.
34. Fernández G, Effenberger O, Vinz B, et al. Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. Neurology 1998; 50: 909-917.
35. Germano IM, Zhang YF, Sperber EF, et al. Neuronal migration disorders increase the susceptibility to hyperthermia induced seizures in the rat. Epilepsia 1996; 37: 902-910.
36. Park KI, Chu K, Jung KH, et al. Role of cortical dysplasia in epileptogenesis following prolonged febrile seizure. Epilepsia 2010; 51: 1809-1819.
37. Colciaghi F, Finardi A, Frasca A, et al. Status epilepticus-induced pathologic plasticity in a rat model of focal cortical dysplasia. Brain 2011; 134: 2828-2843.
38. Bando Y, Hirano T, Tagawa Y,. Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex. Cereb Cortex 2014; 24: 1017-1029.
39. 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.
40. Kalume F, Yu FH, Westenbroek RE, et al. Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J Neurosci 2007; 27: 11065-11074.
41. Oakley JC, Kalume F, Catterall WA,. Insights into pathophysiology and therapy from a mouse model of Dravet syndrome. Epilepsia 2011; 52 (Suppl. 2): 59-61.
42. Catterall WA, Kalume F, Oakley JC,. NaV1.1 channels and epilepsy. J Physiol 2010; 588: 1849-1859.
43. Parrini E, Ramazzotti A, Dobyns WB, et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain 2006; 129: 1892-1906.
44. van Kogelenberg M, Ghedia S, McGillivray G, et al. Periventricular heterotopia in common microdeletion syndromes. Mol Syndromol 2010; 1: 35-41.
45. Conti V, Carabalona A, Pallesi-Pocachard E, et al. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain 2013; 136 (Pt 11): 3378-3394.