A5050969919- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- RNA regulation and disease
- Hereditary Neurological Disorders
- RNA Research and Splicing
- Epilepsy research and treatment
- Neurological diseases and metabolism
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Genetic and rare skin diseases.
- Neonatal Respiratory Health Research
- Neurogenetic and Muscular Disorders Research
- Caveolin-1 and cellular processes
- Fibroblast Growth Factor Research
- Amino Acid Enzymes and Metabolism
- Porphyrin Metabolism and Disorders
- Genetic Neurodegenerative Diseases
- Hemoglobinopathies and Related Disorders
- RNA and protein synthesis mechanisms
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Alcoholism and Thiamine Deficiency
- Cancer, Hypoxia, and Metabolism
Kasturba Medical College, Manipal
2021-2024
Manipal Academy of Higher Education
2021-2024
University of Otago
2022
University Hospital Heidelberg
2022
Austin Health
2022
The University of Melbourne
2022
Northwestern University
2022
Heidelberg University
2022
GenePath Dx (India)
2020
Abstract The application of genomic technologies has led to unraveling the complex genetic landscape disorders epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed counseling. We herein present phenotypic genotypic from 142 Indian families with epilepsy or without comorbidities. Based on electroclinical findings, syndrome diagnosis could be made in 44% (63/142) adopting latest proposal for classification by ILAE task force...
KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate neurodevelopmental and epilepsy phenotypic spectrum associated with de novo variants.We screened 893 individuals developmental epileptic encephalopathies for variants using targeted or exome sequencing. Additional were identified through an international collaboration. Clinical history, EEG, imaging data analyzed; seizure types syndromes classified. included 3 previously published including additional...
Abstract Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals families with Mendelian disorders. This can be mainly attributed to the widespread use of tests for evaluation these We conducted a retrospective study evaluated over last 6 years at our centre identify MGVs MGDs. were observed fourteen families. five different consequences: (i) presenting as blended phenotypes (ii) distinct (iii) age-dependent...
Abstract The contribution of de novo variants as a cause intellectual disability (ID) is well established in several cohorts reported from the developed world. However, genetic landscape appropriate testing strategies for identification these disorders remain largely unknown low-and middle-income countries like India. In this study, we delineate clinical and genotypic spectrum 54 families (55 individuals) with syndromic ID harboring rare variants. We also emphasize on effectiveness singleton...
Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there very few descriptions literature patients carrying biallelic SPAST. Targeted Sanger sequencing, panel sequencing and exome were used identify genetic causes 9 from 6 unrelated families symptoms HSP or infantile neurodegenerative disorder. We describe 5...
Biallelic variants in CARS2 (Cysteinyl-tRNA synthetase 2; MIM*612800), are known to cause combined oxidative phosphorylation deficiency 27 (MIM#616672), characterized by severe myoclonic epilepsy, neuroregression and complex movement disorders. To date, six individuals from five families have been reported with CARS2. Herein, we present an 11-year-old boy who presented neuroregression, dysfluent speech, aggressive behavior tremors for 2 years. An electroencephalogram (EEG) revealed a highly...
Abstract The glycine cleavage system H protein ( GCSH ) is an integral part of the with its additional involvement in synthesis and transport lipoic acid. We hypothesize that pathogenic variants can cause variant nonketotic hyperglycinemia (NKH), a heterogeneous group disorders findings resembling combination severe NKH (elevated levels plasma CSF, progressive lethargy, seizures, hypotonia, no developmental progress, early death) mitochondriopathies (lactic acidosis, leukoencephalopathy...
Abstract TRAPPC4 ‐related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recently described TRAPPopathy clinical findings of developmental delay, seizures, postnatal microcephaly, facial dysmorphism, cerebral cerebellar atrophy. Muscle involvement, frequent finding in TRAPPopathies, was observed one individual TRAPPC4‐ related previously. Only single variant, an in‐frame deletion family has been reported outside recurrent disease‐causing variant....
Abstract Erythrocyte membrane protein band 4.1 like 3 (EPB41L3: NM_012307.5), also known as DAL1, encodes the ubiquitously expressed, neuronally enriched 4.1B protein, part of superfamily membrane-cytoskeleton adaptors. The plays key roles in cell spreading, migration and cytoskeletal scaffolding that support oligodendrocyte axon adhesions essential for proper myelination. We herein describe six individuals from five unrelated families with global developmental delay, intellectual...
ABSTRACT Translocase of the outer mitochondrial membrane (TOMM) complex plays an important role in transport proteins from cytoplasm into mitochondria. TOMM7, one subunits TOMM complex, modulates its assembly and stability. Bi‐allelic disease‐causing variants TOMM7 (MIM* 607980) have been previously reported two unrelated families with a diverse phenotype short stature, lipodystrophy, progeria, developmental delay, hypotonia, skeletal dysplasia. We report 4‐month‐old female child...
ABSTRACT Several genetic disorders are associated with either a permanent deficit or delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed. Molecular diagnosis achieved 22 out (92%). Four (4/9, 44%) were diagnosed targeted 18 (18/23, 78%) using broad testing. Overall, 14 monogenic identified. Twenty...
Introduction KCNK18 , a potassium channel subfamily K member 18 (MIM*613655), encodes for TWIK-related spinal cord K+ (TRESK) and is important maintaining neuronal excitability. Monoallelic variants in are known to cause autosomal dominant migraine, with or without aura, susceptibility to, 13 (MIM#613656). Recently, biallelic missense have been reported three individuals from non-consanguineous family intellectual disability, developmental delay, autism spectrum disorder (ASD), seizure....
Abstract Wiedemann–Rautenstrauch syndrome (WRS; MIM# 264090) is a rare neonatal progeroid disorder resulting from biallelic pathogenic variants in the POLR3A . It an autosomal recessive condition characterized by growth retardation, lipoatrophy, distinctive face, sparse scalp hair, and dental anomalies. Till date, 19 families are reported with WRS due to Here, we describe 18 months old male child c.2005C>T p.(Arg669Ter) c.1771‐7C>G variant heterozygous state identified exome sequencing...
Abstract Objective KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate neurodevelopmental and epilepsy phenotypic spectrum associated with de novo variants. Methods screened 893 individuals developmental epileptic encephalopathies (DEEs) for variants using targeted or exome sequencing. Additional were identified through an international collaboration. Clinical history, EEG, imaging data analyzed; seizure types syndromes classified. included three previously...