Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

doi:10.1016/j.ajhg.2013.07.005

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Article

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

American journal of human genetics - 5 Sept 2013

Basel-Vanagaite Lina, Hershkovitz Tova, Heyman Eli, Raspall-Chaure Miquel, Kakar Naseebullah, Smirin-Yosef Pola, Vila-Pueyo Marta, Kornreich Liora, Thiele Holger, Bode Harald, Lagovsky Irina, Dahary Dvir, Haviv Ami, Hubshman Monika Weisz, Pasmanik-Chor Metsada, Nürnberg Peter, Gothelf Doron, Kubisch Christian, Shohat Mordechai, Macaya Alfons, Borck Guntram

Abstract excerpt

Epileptic encephalopathies are genetically heterogeneous severe disorders in which epileptic activity contributes to neurological deterioration. We studied two unrelated children presenting with a distinctive early-onset epileptic encephalopathy characterized by refractory epilepsy and absent developmental milestones, as well as thick and short corpus callosum and persistent cavum septum pellucidum on brain MRI....

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PMID: 23932106
DOI: 10.1016/j.ajhg.2013.07.005
PMCID: PMC3769928

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SZT2

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