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Article
Open AccessNovel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenoty...
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Article
Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent
Rett syndrome (RTT) is an X-linked disorder caused by mutations in MECP2 in majority of cases. It is characterized by arrested development between 6 and 18 months of age, regression of acquired hand skills and sp...
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Specific Learning Disability in India: Challenges and Opportunities
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Article
Genomics and Radiogenomics in Inherited Neurometabolic Disorders – A Practical Primer for Pediatricians
Advances in genetics has revolutionised the way we understand, diagnose and manage neurological disorders. Notwithstanding the fact that genetic confirmation has already become standard of care in routine clin...
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Article
EEG lateralization and seizure outcome following peri-insular hemispherotomy for pediatric hemispheric epilepsy
To determine whether preoperative non-lateralizing scalp electroencephalography (EEG) influences seizure outcome following peri-insular hemispherotomy (PIH) in pediatric hemispheric epilepsy.
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Article
Imaging in Pediatric Demyelinating and Inflammatory Diseases of Brain- Part 2
Imaging plays an important role in diagnosis, management, prognostication and follow up of pediatric demyelinating and inflammatory diseases of brain and forms an integral part of the diagnostic criteria. This...
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Article
Imaging in Pediatric Demyelinating and Inflammatory Diseases of the Brain- Part 1
Imaging plays an important role in the diagnosis, management, prognostication and follow up of pediatric demyelinating and inflammatory diseases of the brain and forms an integral part of the diagnostic criter...
