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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 8/2014

01-08-2014 | Picture of the Month

Lissencephaly with Subcortical Band Heterotopia in an Indian Family

Authors: Puneet Jain, Dhulika Dhingra, Atin Kumar, Suvasini Sharma, Jagdish Chandra, Satinder Aneja

Published in: Indian Journal of Pediatrics | Issue 8/2014

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Excerpt

An 11-y-old girl presented with seizures for the last 12 mo. She had no adverse perinatal events with normal development history. She had six episodes of generalized-tonic-clonic seizures in the last 12 mo. There were no other seizure types. She had received gradually increasing doses of valproate with partial response. She was a student of class five with poor school performance. The systemic examination was unremarkable besides mild intellectual disability. Her EEG showed multifocal epileptiform abnormalities. …
Literature
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Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: Update 2012. Brain. 2012;135:1348–69.PubMedCentralPubMedCrossRef
2.
Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, et al. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 1999;8:1757–60.PubMedCrossRef
3.
Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010;51:S5–9.CrossRef
Metadata
Title
Lissencephaly with Subcortical Band Heterotopia in an Indian Family
Authors
Puneet Jain
Dhulika Dhingra
Atin Kumar
Suvasini Sharma
Jagdish Chandra
Satinder Aneja
Publication date
01-08-2014
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 8/2014
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-013-1333-z

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