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Epilepsy Research
Volume 87, Issue 1
, Pages 25-30
, November 2009
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
References
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- . ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum. Mol. Genet. 2002;11:981–991
- . Myoclonic encephalopathy in the CDKL5 gene mutation. Clin. Neurophysiol. 2006;117:223–227
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- . Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology. 2006;67:1230–1235
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- . The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr. Opin. Pediatr. 2003;15:567–571
- . Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum. Mutat. 2006;27:914–920
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- . Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology. 2003;61:765–769
- . Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia. 2008;49:1528–1534
PII: S0920-1211(09)00196-X
doi: 10.1016/j.eplepsyres.2009.07.004
© 2009 Elsevier B.V. All rights reserved.
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Epilepsy Research
Volume 87, Issue 1
, Pages 25-30
, November 2009
