Sodium channel alpha 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

Wallace, R. H., Hodgson, B. L., Grinton, B .E., Gardiner, R. M., Robinson, R., Rodriguez-Casero, V., Sadleir, L., Morgan, J., Harkin, L. A., Dibbens, L. M., Yamamoto, T., Andermann, E., Mulley, J. C., Berkovic, S. F. and Scheffer, I. E. (2003) Sodium channel alpha 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61 6: 765-769.

Author Wallace, R. H.
Hodgson, B. L.
Grinton, B .E.
Gardiner, R. M.
Robinson, R.
Rodriguez-Casero, V.
Sadleir, L.
Morgan, J.
Harkin, L. A.
Dibbens, L. M.
Yamamoto, T.
Andermann, E.
Mulley, J. C.
Berkovic, S. F.
Scheffer, I. E.
Title Sodium channel alpha 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
Journal name Neurology   Check publisher's open access policy
ISSN 0028-3878
Publication date 2003-09
Sub-type Article (original research)
Volume 61
Issue 6
Start page 765
End page 769
Total pages 5
Place of publication Philadelphia
Publisher Lippincott Williams & Wilkins
Language eng
Subject 1103 Clinical Sciences
1114 Paediatrics and Reproductive Medicine
Abstract Background: Mutations in SCN1A, the gene encoding the alpha1 subunit of the sodium channel, have been found in severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS(+)). Mutations in SMEI include missense, nonsense, and frameshift mutations more commonly arising de novo in affected patients. This finding is difficult to reconcile with the family history of GEFS(+) in a significant proportion of patients with SMEI Infantile spasms (IS), or West syndrome, is a severe epileptic encephalopathy that is usually symptomatic. In some cases, no etiology is found and there is a family history of epilepsy. Method: The authors screened SCN1A in 24 patients with SMEI and 23 with IS. Results: Mutations were found in 8 of 24 (33%) SMEI patients, a frequency much lower than initial reports from Europe and Japan. One mutation near the carboxy terminus was identified in an IS patient. A family history of seizures was found in 17 of 24 patients with SMEI. Conclusions: The rate of SCN1A mutations in this cohort of SMEI patients suggests that other factors may be important in SMEI. Less severe mutations associated with GEFS(+) could interact with other loci to cause SMEI in cases with a family history of GEFS(+). This study extends the phenotypic heterogeneity of mutations in SCN1A to include IS.
Keyword Clinical Neurology
Febrile Seizures Plus
Generalized Epilepsy
Clinical Phenotypes
Scn1a Mutation
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
Queensland Brain Institute Publications
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Created: Mon, 13 Aug 2007, 13:49:16 EST