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Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in ISATB1/I: A...

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in ISATB1/I: A...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A795392050

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in ISATB1/I: A New Case Report and Review of the Literature

About this item

Full title

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in ISATB1/I: A New Case Report and Review of the Literature

Publisher

MDPI AG

Journal title

Genes, 2024-05, Vol.15 (5)

Language

English

Formats

Publication information

Publisher

MDPI AG

More information

Scope and Contents

Contents

SATB1 (MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging. To date about thirty variants in forty-four patients/chi...

Alternative Titles

Full title

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in ISATB1/I: A New Case Report and Review of the Literature

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_gale_infotracmisc_A795392050

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A795392050

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes15050548

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