Srikala Narayanan

Dr. Srikala Narayanan

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Research Focus & Metrics

Academic Career Length

7Years (2020-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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1 April 2020 in Seminars in Pediatric Neurology
Verified
Journal Article
Closed access
SNSrikala Narayanan
Srikala Narayanan
VSVincent Schmithorst
Vincent Schmithorst
APAshok Panigrahy
Ashok Panigrahy

25 October 2023 in Child's Nervous System
Verified
Journal Article
Closed access
PDF file
LBLaura De Leon Benedetti
Laura De Leon Benedetti
SNSrikala Narayanan
Srikala Narayanan
VLVince Lee
Vince Lee
APAshok Panigrahy
Ashok Panigrahy
FBFernando Boada
Fernando Boada
ABAashim Bhatia
Aashim Bhatia

8 June 2022 in BJR|case reports
Verified
Journal Article
Open access
CRCharith Ratnayake
Charith Ratnayake
SNSrikala Narayanan
Srikala Narayanan
JGJenna Gaesser
Jenna Gaesser
SSSubramanian Subramanian
Subramanian Subramanian
Cerebrofaciothoracic dysplasia (CFTD) is a developmental disorder characterized by distinctive craniofacial dysmorphism, global developmental delay, and skeletal anomalies. CTFD is the result of biallelic autosomal recessive loss of function mutations in the transmembrane and coiled-coil domains one protein (TMCO1) gene. Based on a population of 27 molecularly confirmed cases, classic brain morphologies associated with CFTD have been described in the literature. Previous studies have demonstrated only mild ventriculomegaly, corpus callosum abnormalities, frontotemporal atrophy, and three cases of associated epilepsy. We present previously undescribed brain MRI findings in two children presenting with seizures due to TMCO1 mutation. MR Imaging demonstrated hippocampal malrotation, olfactory bulb agenesis and olfactory sulcus hypoplasia in both children, pontine hypoplasia, and cochlear nerve agenesis in one child. We demonstrate that TMCO1 may play a more extensive and previously undescribed role in neurodevelopment thereby expanding the phenotype associated with CFTD.