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Infant with Refractory Seizures and Characteristic Diffusion Restriction Pattern on Neuroimaging

Published online by Cambridge University Press:  20 November 2024

Sangeetha Yoganathan ,
Pradeep Krishnan ,
Manohar Shroff ,
Mohammed AlQahtani Open the ORCID record for Mohammed AlQahtani [Opens in a new window] ,
Prasiddha Parthasarathy ,
Vann Chau ,
Laura Guilder ,
Gregory Costain ,
Carolina Gorodetsky Open the ORCID record for Carolina Gorodetsky [Opens in a new window]  and
Puneet Jain Open the ORCID record for Puneet Jain [Opens in a new window]
Sangeetha Yoganathan
Affiliation:
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
Pradeep Krishnan
Affiliation:
Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada
Manohar Shroff
Affiliation:
Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada
Mohammed AlQahtani
Affiliation:
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
Prasiddha Parthasarathy
Affiliation:
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
Vann Chau
Affiliation:
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
Laura Guilder
Affiliation:
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
Gregory Costain
Affiliation:
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
Carolina Gorodetsky
Affiliation:
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
Puneet Jain*
Affiliation:
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
*
Corresponding author: Puneet Jain; Email: [email protected]
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Abstract

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Keywords

ITPA genedevelopmental and epileptic encephalopathy 35ITPase deficiencygenome sequencingapneic seizures
Type
Neuroimaging Highlight
Information
Canadian Journal of Neurological Sciences , First View , pp. 1 - 3
Copyright
© The Author(s), 2024. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

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References

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Kevelam, SH, Bierau, J, Salvarinova, R, et al. Recessive ITPA mutations cause an early infantile encephalopathy. Ann Neurol. 2015;78(4):649–658. DOI: 10.1002/ana.24496. Epub 2015 Aug 21.CrossRefGoogle ScholarPubMed
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