Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy

Journal of Neurosurgery: Pediatrics

Volumn 16, Issue 6, 2015, Pages 668-674

  Skjei, Karen L ^a,b   Church, Ephraim W ^c   Harding, Brian N ^a,b   Santi, Mariarita ^a,b   Holland Bouley, Katherine D ^d   Clancy, Robert R ^a,b   Porter, Brenda E ^a,b   Heuer, Gregory G ^a,b   Marsh, Eric D ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cortical malformations; DRAVET syndrome; Epilepsy surgery; Histopathology; SCN1A mutations

Indexed keywords

ISOLEUCINE; SODIUM CHANNEL NAV1.1; THREONINE; SCN1A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BRAIN CONTUSION; BRAIN CORTEX; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; COMPLEX PARTIAL SEIZURE; CORTICAL DYSPLASIA; DRUG RESISTANT EPILEPSY; ELECTROPHYSIOLOGY; ENCEPHALOMALACIA; FEMALE; FOCAL EPILEPSY; GENE DELETION; HIPPOCAMPAL SCLEROSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTRACTABLE EPILEPSY; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MIXED SEIZURE; MYOCLONUS SEIZURE; OUTCOME ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SUBARACHNOID HEMORRHAGE; TONIC CLONIC SEIZURE; WHITE MATTER; ABNORMALITIES; COMPLICATION; ELECTROENCEPHALOGRAPHY; EPILEPSIES, PARTIAL; GENETICS; INFANT; MALFORMATIONS OF CORTICAL DEVELOPMENT; MEDICAL RECORD; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; TREATMENT FAILURE; YOUNG ADULT;

ADOLESCENT; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; DRUG RESISTANT EPILEPSY; ELECTROENCEPHALOGRAPHY; EPILEPSIES, PARTIAL; FEMALE; HUMANS; INFANT; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MEDICAL RECORDS; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; RETROSPECTIVE STUDIES; TREATMENT FAILURE; YOUNG ADULT;

EID: 84971655055     PISSN: 19330707     EISSN: 19330715     Source Type: Journal    
DOI: 10.3171/2015.5.PEDS14551     Document Type: Article

References (25)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al: A method and server for predicting damaging missense mutations. Nat Methods 7:248-249, 2010
2. Auvin S, Dulac O, Vallée L: Do SCN1A mutations protect from hippocampal sclerosis? Epilepsia 49:1107-1108, 2008
3. Barba C, Parrini E, Coras R, Galuppi A, Craiu D, Kluger G, et al: Co-occurring malformations of cortical development and SCN1A gene mutations. Epilepsia 55:1009-1019, 2014
4. Blümcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, et al: The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 52:158-174, 2011
5. Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, et al: Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 134:2982-3010, 2011
6. Ceulemans BP, Claes LR, Lagae LG: Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol 30:236-243, 2004
7. Chamberlain WA, Cohen ML, Gyure KA, Kleinschmidt-DeMasters BK, Perry A, Powell SZ, et al: Interobserver and intraobserver reproducibility in focal cortical dysplasia (malformations of cortical development). Epilepsia 50:2593-2598, 2009
8. Cuzon VC, Yeh PW, Cheng Q, Yeh HH: Ambient GABA promotes cortical entry of tangentially migrating cells derived from the medial ganglionic eminence. Cereb Cortex 16:1377-1388, 2006
9. Dravet C: The core Dravet syndrome phenotype. Epilepsia 52 (Suppl 2):3-9, 2011
10. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, et al: Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126:531-546, 2003
11. Guerrini R, Striano P, Catarino C, Sisodiya SM: Neuroimaging and neuropathology of Dravet syndrome. Epilepsia 52 (Suppl 2):30-34, 2011
12. Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, et al: The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130:843-852, 2007
13. Hayashi M, Sugai K, Kurihara E, Tamagawa K: An autopsy case of severe myoclonic epilepsy of infancy, who died of acute encephalopathy associated with influenza infection. Epilepsia 45 (Suppl 8):65, 2004
14. Krsek P, Maton B, Korman B, Pacheco-Jacome E, Jayakar P, Dunoyer C, et al: Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol 63:758-769, 2008
15. Le Gal F, Korff CM, Monso-Hinard C, Mund MT, Morris M, Malafosse A, et al: A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation. Epilepsia 51:1915-1918, 2010
16. LoTurco JJ, Blanton MG, Kriegstein AR: Initial expression and endogenous activation of NMDA channels in early neocortical development. J Neurosci 11:792-799, 1991
17. Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, et al: The genetics of Dravet syndrome. Epilepsia 52 (Suppl 2):24-29, 2011
18. Renier WO, Renkawek K: Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy. Epilepsia 31:287-291, 1990
19. Siegler Z, Barsi P, Neuwirth M, Jerney J, Kassay M, Janszky J, et al: Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study. Epilepsia 46:704-708, 2005
20. Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, et al: Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia 48:1092-1096, 2007
21. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, et al: Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58:1122-1124, 2002
22. Van Poppel K, Patay Z, Roberts D, Clarke DF, McGregor A, Perkins FF, et al: Mesial temporal sclerosis in a cohort of children with SCN1A gene mutation. J Child Neurol 27:893-897, 2012
23. Weissman TA, Riquelme PA, Ivic L, Flint AC, Kriegstein AR: Calcium waves propagate through radial glial cells and modulate proliferation in the developing neocortex. Neuron 43:647-661, 2004
24. Wieser HG, Blume WT, Fish D, Goldensohn E, Hufnagel A, King D, et al: ILAE Commission Report. Proposal for a new classification of outcome with respect to epileptic seizures following epilepsy surgery. Epilepsia 42:282-286, 2001
25. Wolff M, Cassé-Perrot C, Dravet C: Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia 47 (Suppl 2):45-48, 2006