Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study
…, Y Li, CC de Vasconcelos Lima, L Lingappa… - The Lancet Child & …, 2021 - thelancet.com
Background The CNS manifestations of COVID-19 in children have primarily been
described in case reports, which limit the ability to appreciate the full spectrum of the disease …
described in case reports, which limit the ability to appreciate the full spectrum of the disease …
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
…, N De Lacy, D O'Day, A Alswaid, L Lingappa… - Journal of medical …, 2015 - jmg.bmj.com
Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder
characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements …
characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements …
KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases
…, S Gulati, T Hershkovitz, R Konanki, L Lingappa… - …, 2020 - Wiley Online Library
Objective Through international collaboration, we evaluated the phenotypic aspects of a
multiethnic cohort of KCNT1‐related epilepsy and explored genotype‐phenotype …
multiethnic cohort of KCNT1‐related epilepsy and explored genotype‐phenotype …
Mineralizing angiopathy with infantile basal ganglia stroke after minor trauma
L Lingappa, RD Varma, S Siddaiahgari… - … Medicine & Child …, 2014 - Wiley Online Library
Aims The objective of this study was to describe a cohort of infants with basal ganglia stroke
associated with mineralization in the lenticulostriate arteries and their clinical outcomes …
associated with mineralization in the lenticulostriate arteries and their clinical outcomes …
Clinical and molecular diagnosis of Joubert syndrome and related disorders
ARR Devi, SM Naushad, L Lingappa - Pediatric neurology, 2020 - Elsevier
Background Joubert syndrome and related disorders are a group of ciliopathies
characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor …
characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor …
KCNJ10 mutations disrupt function in patients with EAST syndrome
B Freudenthal, D Kulaveerasingam, L Lingappa… - Nephron …, 2011 - karger.com
Background/Aims: Mutations in the inwardly-rectifying K+ channel KCNJ10/Kir4. 1 cause an
autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and …
autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and …
GLRB is the third major gene of effect in hyperekplexia
…, M Parker, C Rittey, A Masri, L Lingappa… - Human molecular …, 2013 - academic.oup.com
Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption
triggers a paediatric and adult startle disorder, hyperekplexia. The postsynaptic α1-subunit …
triggers a paediatric and adult startle disorder, hyperekplexia. The postsynaptic α1-subunit …
Psychological outcomes, coping and illness perceptions among parents of children with neurological disorders
…, CE Wakefield, N Muppavaram, L Lingappa… - Psychology & …, 2021 - Taylor & Francis
Abstract Objective To assess the Common Sense Model among parents of children with
neurological disorders, by determining the prevalence of symptoms of anxiety and …
neurological disorders, by determining the prevalence of symptoms of anxiety and …
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
…, MB Toosi, EG Karimiani, G Yeşil, L Lingappa… - Brain, 2024 - academic.oup.com
Highly conserved transport protein particle (TRAPP) complexes regulate subcellular
trafficking pathways. Accurate protein trafficking has been increasingly recognized to be …
trafficking pathways. Accurate protein trafficking has been increasingly recognized to be …
KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature
…, UV Kinhal, AY Bylappa, R Konanki, L Lingappa… - …, 2024 - Wiley Online Library
Objective KCTD7‐related progressive myoclonic epilepsy (PME) is a rare autosomal‐
recessive disorder. This study aimed to describe the clinical details and genetic variants in a …
recessive disorder. This study aimed to describe the clinical details and genetic variants in a …