Works matching AU Srinivasan, Varunvenkat M.

Results: 59

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1360, doi. 10.1002/acn3.70047

By:

Lee, Eun Hye;
Kim‐Mcmanus, Olivia;
Yang, Jennifer H.;
Haas, Richard;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.;
Nakamura, Yuji;
Abdel‐Hamind, Mohamed S.;
Ebrahimi‐Fakhari, Darius;
Alecu, Julian E.;
Brunetti‐Pierri, Nicola;
Srinivasan, Varunvenkat M.;
Gowda, Vykuntaraju K.;
Gross, Stephanie;
Alanay, Yasemin;
Najarzadeh Totbati, Paria;
Yadavilli, Manya;
Friedman, Liana;
Ojeda, Naomi Meave;
Gleeson, Joseph G.

Publication type:

Article

Expanding the Phenotypic Spectrum of DPH2‐Related Disorder.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 8, p. 1, doi. 10.1002/ajmg.a.64061

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Kinhal, Uddhava V.;
Srinivas, Sahana M.;
Pandey, Himani;
Phani, Nagaraja M.;
Dhayalan, Pavithra;
Lal, Devi

Publication type:

Article

Expanding the Phenotype of NRROS‐Related SENEBAC Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 3, p. 1, doi. 10.1002/ajmg.a.63899

By:

Srinivasan, Varunvenkat M.;
Gowda, Vykuntaraju K.;
Markose, Annsmol P.;
Kinhal, Uddhava V.;
Pandey, Himani

Publication type:

Article

A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2446, doi. 10.1002/ajmg.a.63310

By:

Werren, Elizabeth A.;
Srinivasan, Varunvenkat M.;
Gowda, Vykuntaraju K.;
Pandey, Akanksha;
Vaish, Saurabh;
Kabbur, Anusha Raj;
Nandeesh, Bevinahalli N.;
Srivastava, Anshika

Publication type:

Article

Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 226, doi. 10.1111/cge.14431

By:

Tiwari, Amit K.;
Srinivasan, Varunvenkat M.;
Phadke, Shubha R.;
Saxena, Deepti

Publication type:

Article

Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings.

Published in:

Advanced Biomedical Research, 2023, v. 12, n. 6, p. 1, doi. 10.4103/abr.abr_98_22

By:

Gowda, Vykuntaraju K.;
Mathada, Amit Avaragollapuravarga;
Srinivasan, Varunvenkat M.;
Vamyanmane, Dhananjaya K.

Publication type:

Article

Noonan Syndrome Like with Loose Anagen-1 due to SHOC2 Mutation—A Report of Two Cases from India.

Published in:

Indian Dermatology Online Journal, 2024, v. 15, n. 6, p. 1025, doi. 10.4103/idoj.idoj_767_23

By:

Gowda, Vykuntaraju K.;
Yalagishettar, Deepa B.;
Srinivasan, Varunvenkat M.;
Srinivas, Sahana M.

Publication type:

Article

Orthotopic Liver Transplantation (OLT) in Arginase Deficiency (AD).

Published in:

2025

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Reddy, Viveka-Santhosh

Publication type:

Letter

Clinico-Radiological Mimics and Outcome of Intrauterine TORCH Infection and Aicardi-Goutieres Syndrome; Pseudo-TORCH from a Tertiary Care Centre in South India.

Published in:

2025

By:

Gowda, Vykuntaraju K.;
Ameen, Saniya;
Reddy C., Viveka Santhosh;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria.

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Markose, Annsmol P.;
Srinivasan, Varunvenkat M.;
Reddy, Viveka Santhosh C.

Publication type:

Letter

L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection.

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Roy, Amaresh;
Kinhal, Uddhava;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Rare Treatable Neurometabolic Condition — Adenosine Kinase Deficiency.

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Babu, Sharath;
Kinhal, Uddhava;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Genetically Confirmed Case of Aspartylglycosaminuria (AGU).

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Khemalapures, Ruchita;
Kinhal, Uddhava;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors' Reply.

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Babu, Sharath;
Kinhal, Uddhava;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy.

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Babu, Sharath;
Kinhal, Uddhava;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors' Reply.

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Markose, Annsmol P.;
Reddy, Viveka Santhosh;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency.

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Siddiqa, Ayeesha;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes.

Published in:

2024

By:

Markose, Annsmol P.;
Gowda, Vykuntaraju K.;
Reddy, Viveka Santhosh;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings.

Published in:

2024

By:

Gowda, Vykuntaraju K;
Reddy, Viveka-Santhosh;
Krishnanada, Vikas;
Srinivasan, Varunvenkat M

Publication type:

Letter

PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome.

Published in:

Indian Journal of Pediatrics, 2024, v. 91, n. 1, p. 86, doi. 10.1007/s12098-023-04702-w

By:

Gowda, Vykuntaraju K;
Srinivasan, Varunvenkat M

Publication type:

Article

A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency.

Published in:

2023

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia.

Published in:

2023

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Kinhal, Uddhav

Publication type:

Letter

Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications.

Published in:

2023

By:

Gowda, Vykuntaraju K.;
Reddy, Viveka-Santhosh;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC).

Published in:

2023

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate.

Published in:

2023

By:

Gowda, Vykuntaraju K;
Srinivasan, Varunvenkat M

Publication type:

Letter

In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor ( SHQ1) from Indian population.

Published in:

Journal of Family Medicine & Primary Care, 2024, v. 13, n. 1, p. 208, doi. 10.4103/jfmpc.jfmpc_979_23

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Srivastava, Sudhanshu;
Ghali, Noor;
Kinhal, Uddhav;
Shamnur, Asha;
Srivastava, Anshika

Publication type:

Article

Etiological Evaluation of Infantile Epileptic Spasms Syndrome (West Syndrome) Based on the New 2017 International League Against Epilepsy Seizure Classification from Southern India.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, n. 2, p. 113, doi. 10.4103/jpn.JPN_111_21

By:

Gowda, Vykuntaraju K.;
Mohanty, Shanti Bhusan;
Sugumar, Kiruthiga;
Srinivasan, Varunvenkat M.

Publication type:

Article

Clinical and Laboratory Profile of Pediatric Metachromatic Leukodystrophies in a Tertiary Care Center from Southern Part of India.

Published in:

Journal of Pediatric Neurosciences, 2022, v. 17, n. 4, p. 285, doi. 10.4103/jpn.JPN_331_20

By:

Gowda, Vykuntaraju Kammasandra;
Suryanarayana, Srividya G.;
Srinivasan, Varunvenkat M.;
Shivappa, Sanjay K.;
Benakappa, Naveen;
Bhat, Maya;
Muthane, Yasha

Publication type:

Article

Macrophagic Myofasciitis: A Report of Two South Indian Infants.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 279, doi. 10.4103/jpn.JPN_141_19

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Muthane, Yasha;
Narayanappa, Gayathri

Publication type:

Article

Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.

Published in:

Indian Pediatrics, 2025, v. 62, n. 5, p. 366, doi. 10.1007/s13312-025-00061-1

By:

Gowda, Vykuntaraju K.;
Gowda, Prafful;
Srinivasan, Varunvenkat M.;
Kinhal, Udhav;
Vegda, Hemadri;
Reddy, Viveka-Santhosh

Publication type:

Article

Reversible Basal Ganglia Changes in a Child With Infantile Tremor Syndrome.

Published in:

2023

By:

Gowda, Vykuntaraju K.;
Bylappa, Arun Y.;
Kinhal, Uddhav;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India.

Published in:

2018

By:

Gowda, Vykuntaraju K;
Kolli, Vinyasa;
Benakappa, Asha;
Srinivasan, Varunvenkat M;
Shivappa, Sanjay K;
Benakappa, Naveen

Publication type:

journal article

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India.

Published in:

Epilepsia Open, 2023, v. 8, n. 4, p. 1383, doi. 10.1002/epi4.12811

By:

Nagarajan, Balamurugan;
Gowda, Vykuntaraju K.;
Yoganathan, Sangeetha;
Sharawat, Indar Kumar;
Srivastava, Kavita;
Vora, Nitish;
Badheka, Rahul;
Danda, Sumita;
Kalane, Umesh;
Kaur, Anupriya;
Madaan, Priyanka;
Mehta, Sanjiv;
Negi, Sandeep;
Panda, Prateek Kumar;
Rajadhyaksha, Surekha;
Saini, Arushi Gahlot;
Saini, Lokesh;
Shah, Siddharth;
Srinivasan, Varunvenkat M.;
Suthar, Renu

Publication type:

Article

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.

Published in:

2025

By:

Gowda, Vykuntaraju K;
Srinivasan, Varunvenkat M;
Krishnanada, Vikas;
Sathyakumar, Rima;
Mahadevan, Anita

Publication type:

Letter

Unmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications–Challenges in Diagnosis and Management.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 437, doi. 10.4103/aian.aian_920_24

By:

Gowda, Vykuntaraju K;
Nayak, Priyanka A;
Kinhal, Uddhava V;
Roy, Amaresh;
Srinivasan, Varunvenkat M

Publication type:

Article

Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene.

Published in:

2022

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Reddy, Varsha;
Bhat, Maya

Publication type:

Letter to the Editor

Childhood Myocerebrohepatopathy Spectrum Disorder due to Polymerase Gamma Pathogenic Variant.

Published in:

2021

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Shivappa, Sanjay K.

Publication type:

Case Study

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1910, doi. 10.1002/acn3.51874

By:

Efthymiou, Stephanie;
Novis, Luiz E.;
Koutsis, Georgios;
Koniari, Chrysoula;
Maroofian, Reza;
Turchetti, Valentina;
Velonakis, Georgios;
Vasconcellos, Luiz F.;
Raskin, Salmo;
Srinivasan, Varunvenkat M.;
Pagnamenta, Alistair T.;
Arun, Yaramanchanahalli B.;
Kinhal, Uddhava V.;
Gowda, Vykuntaraju K.;
Teive, Helio A. G.;
Houlden, Henry

Publication type:

Article

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia.

Published in:

Movement Disorders, 2024, v. 39, n. 6, p. 983, doi. 10.1002/mds.29754

By:

Kaiyrzhanov, Rauan;
Ortigoza‐Escobar, Juan Darío;
Stringer, Brett W.;
Ganieva, Manizha;
Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Macaya, Alfons;
Laner, Andreas;
Onbool, Enas;
Al‐Shammari, Randa;
Al‐Owain, Mohammed;
Deconinck, Nicolas;
Vilain, Catheline;
Dontaine, Pauline;
Self, Eleanor;
Akram, Rabia;
Hussain, Ghulam;
Baig, Shahid Mahmood;
Iqbal, Javed;
Salpietro, Vincenzo

Publication type:

Article

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 1015, doi. 10.1002/humu.24236

By:

Rajeshwari, Mohan;
Karthi, Sellamuthu;
Singh, Reetu;
Efthymiou, Stephanie;
Gowda, Vykuntaraju K.;
Varalakshmi, Perumal;
Srinivasan, Varunvenkat M.;
Houlden, Henry;
Keller, Markus A.;
Rizzo, William B.;
Ashokkumar, Balasubramaniem

Publication type:

Article

A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder.

Published in:

2022

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.

Publication type:

Letter

Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1.

Published in:

2022

By:

Gowda, Vykuntaraju K.;
Reddy, Varsha;
Srinivasan, Varunvenkat M.;
Vamyanmane, Dhananjaya K.

Publication type:

Letter

Infantile Tremor Syndrome Presenting as Stroke.

Published in:

2022

By:

Gowda, Vykuntaraju K.;
Umesh, Navya K.;
Srinivasan, Varunvenkat M.;
Bhat, Maya

Publication type:

Letter

A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder.

Published in:

2021

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Reddy, Varsha;
Saini, Jitendra;
Bhat, Maya

Publication type:

Letter

Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome.

Published in:

2021

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Shivappa, Sanjay K.

Publication type:

Letter

Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child.

Published in:

2021

By:

Gowda, Vykuntaraju K.;
Battina, Manojna;
Srinivasan, Varunvenkat M.;
Shivappa, Sanjay K.

Publication type:

Case Study

Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant.

Published in:

Indian Journal of Pediatrics, 2021, v. 88, n. 3, p. 312, doi. 10.1007/s12098-020-03253-8

By:

Gowda, Vykuntaraju K.;
Nagarajan, Balamurugan;
Srinivasan, Varunvenkat M.;
Bhat, Maya

Publication type:

Article

Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms.

Published in:

2020

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Bhat, Maya;
Prasad, Chandrajit

Publication type:

Letter

Fucosidosis with Pathogenic Variant in FUCA1 Gene.

Published in:

2020

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Vegda, Hemadri;
Bhat, Maya

Publication type:

Letter

Report of Two Siblings with Andermann Syndrome.

Published in:

2020

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varunvenkat M.;
Sarmast, Syed N.;
Shivappa, Sanjay K.

Publication type:

Letter