Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation

Pediatric Neurology

Volumn 45, Issue 3, 2011, Pages 193-196

  Yamazaki, Sawako ^a   Ikeno, Kanju ^a   Abe, Tokinari ^a   Tohyama, Jun ^b   Adachi, Yoshiki ^c  

^a NIIGATA CITY GENERAL HOSPITAL   (Japan)

^b NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^c Matsue Co medical College   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; IMMUNOGLOBULIN M ANTIBODY; MIDAZOLAM; VOLTAGE GATED CALCIUM CHANNEL;

ANTIBODY BLOOD LEVEL; ARTICLE; BRAIN EDEMA; CASE REPORT; CEREBELLAR ATAXIA; CHILD; COMPLEX PARTIAL SEIZURE; CONVULSION; DEVELOPMENTAL DISORDER; EPILEPSY; ERYTHEMA INFECTIOSUM; FAMILIAL DISEASE; FEMALE; FEVER; GENE MUTATION; HEMICONVULSION HEMIPLEGIA SYNDROME; HUMAN; HUMAN PARVOVIRUS B19; MAGNETIC RESONANCE ANGIOGRAPHY; MIGRAINE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; UNCONSCIOUSNESS; VOMITING;

BRAIN; CALCIUM CHANNELS; CHILD, PRESCHOOL; DNA; EPILEPSY; EXONS; FEMALE; HEMIPLEGIA; HUMANS; MAGNETIC RESONANCE IMAGING; PARVOVIRIDAE INFECTIONS; PARVOVIRUS B19, HUMAN; SEIZURES; SYNDROME;

EID: 80051500567     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.04.010     Document Type: Article

References (14)

1. J.L. Freeman, L.T. Coleman, L.J. Smith, and L.K. Shield Hemiconvulsion-hemiplegia-epilepsy syndrome: Characteristic early magnetic resonance imaging findings J Child Neurol 17 2002 10 16 (Pubitemid 34406879)
2. S.M. Mirsattari, N.J. Wilde, and S.E. Pigott Long-term cognitive outcome of hemiconvulsion-hemiplegia-epilepsy syndrome affecting the left cerebral hemisphere Epilepsy Behav 13 2008 678 680
3. Headache Classification Committee of the International Headache Society The international classification of headache disorders, 2nd edition Cephalalgia 24 Suppl. 1 2004 1 160
4. D. Pietrobon Familial hemiplegic migraine Neurotherapeutics 4 2007 274 284 (Pubitemid 46467543)
5. 2+ channel gene CACNL1A4 Cell 87 1996 543 552 (Pubitemid 26374327)
6. E.E. Kors, G.M. Terwindt, and F.L.M.G. Vermeulen Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine Ann Neurol 49 2001 753 760 (Pubitemid 32530242)
7. R.P. Curtain, R.L. Smith, M. Ovcaric, and L.R. Griffiths Minor head trauma-induced sporadic hemiplegic migraine coma Pediatr Neurol 34 2006 329 332
8. A.H. Stam, G.J. Luijckx, and B.T. Poll-Thé Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation J Neurol Neurosurg Psychiatry 80 2009 1125 1129
9. S. Debiais, C. Hommet, and I. Bonnaud The FHM1 mutation S218L: A severe clinical phenotype? A case report and review of the literature Cephalalgia 29 2009 1337 1339
10. I. Toldo, M. Calderone, C. Boniver, C. Dravet, R. Guerrini, and A.M. Laverda Hemiconvulsion-hemiplegia-epilepsy syndrome: Early magnetic resonance imaging findings and neuroradiological follow-up Brain Dev 29 2007 109 111 (Pubitemid 46162035)
11. J. Kawada, H. Kimura, and T. Yoshikawa Hemiconvulsion-hemiplegia-epilepsy syndrome and primary human herpesvirus 7 infection Brain Dev 26 2004 412 414 (Pubitemid 38953332)
12. H. Wakamoto, M. Ohta, and N. Nakano Hypercytokinemia in hemiconvulsions-hemiplegia-epilepsy syndrome associated with dual infection with Varicella zoster viruses and Epstein-Barr virus Neuropediatrics 33 2002 262 265 (Pubitemid 36134201)
13. T. Hisano, M. Ohno, T. Egawa, T. Takano, and M. Shimada Changes in diffusion-weighted MRI after status epilepticus Pediatr Neurol 22 2000 327 329 (Pubitemid 30224678)
14. A. Ducros, C. Denier, and A. Joutel The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel N Engl J Med 345 2001 17 24 (Pubitemid 32634267)