Works matching AU Gowda, Vykuntaraju K.

Results: 124

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

Cannabidiol in Drug-Resistant Epilepsy (DRE) in Children: A Retrospective Study.

Published in:

Indian Pediatrics, 2025, v. 62, n. 7, p. 501, doi. 10.1007/s13312-025-00075-9

By:

Gowda, Vykuntaraju K.;
Simin, Halima;
Kinhal, Uddhava V.;
Basavaraja, G. V.;
Sanjay, K. S.

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

KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 3, p. 709, doi. 10.1111/epi.17880

By:

Yoganathan, Sangeetha;
Whitney, Robyn;
Thomas, Maya;
Danda, Sumita;
Chettali, Akbar Mohamed;
Prasad, Asuri N.;
Farhan, Sali M. K.;
AlSowat, Daad;
Abukhaled, Musaad;
Aldhalaan, Hesham;
Gowda, Vykuntaraju K.;
Kinhal, Uddhava V.;
Bylappa, Arun Y.;
Konanki, Ramesh;
Lingappa, Lokesh;
Parchuri, Bindu Madhavi;
Appendino, Juan P.;
Scantlebury, Morris H.;
Cunningham, Jessie;
Hadjinicolaou, Aristides

Publication type:

Article

Diagnostic Markers of Severe COVID‐19 and Community‐Acquired Pneumonia in Children From Southern India.

Published in:

Microbiology & Immunology, 2025, v. 69, n. 3, p. 174, doi. 10.1111/1348-0421.13198

By:

Damodar, Tina;
Lodha, Lonika;
Suran, Sourabh;
Prabhu, Namratha;
Jose, Maria;
Kinhal, Uddhav;
Basavaraja, G. V.;
Gowda, Vykuntaraju K.;
Mani, Reeta S.

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

Chromoblastomycosis Associated with Bone and Central Nervous Involvement System in an Immunocompetent Child Caused by Exophiala Spinifera.

Published in:

Indian Journal of Dermatology, 2016, v. 61, n. 3, p. 324, doi. 10.4103/0019-5154.182425

By:

Srinivas, Sahana M.;
Gowda, Vykuntaraju K.;
Mahantesh, S.;
Mannapur, Rajeshwari;
Shivappa, Sanjay K.

Publication type:

Article

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.

Published in:

Journal of Neurology, 2019, v. 266, n. 8, p. 1919, doi. 10.1007/s00415-019-09358-1

By:

Ganapathy, Aparna;
Mishra, Avshesh;
Soni, Megha Rani;
Kumar, Priyanka;
Sadagopan, Mukunth;
Kanthi, Anil Vittal;
Patric, Irene Rosetta Pia;
George, Sobha;
Sridharan, Aparajit;
Thyagarajan, T. C.;
Aswathy, S. L.;
Vidya, H. K.;
Chinnappa, Swathi M.;
Nayanala, Swetha;
Prakash, Manasa B.;
Raghavendrachar, Vijayashree G.;
Parulekar, Minothi;
Gowda, Vykuntaraju K.;
Nampoothiri, Sheela;
Menon, Ramshekhar N.

Publication type:

Article

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00613-9

By:

Sheth, Harsh;
Nair, Aadhira;
Bhavsar, Riddhi;
Kamate, Mahesh;
Gowda, Vykuntaraju K.;
Bavdekar, Ashish;
Kadam, Sandeep;
Nampoothiri, Sheela;
Panigrahi, Inusha;
Kaur, Anupriya;
Shah, Siddharth;
Mehta, Sanjeev;
Jagadeesan, Sujatha;
Suresh, Indrani;
Kapoor, Seema;
Bajaj, Shruti;
Devi, Radha Rama;
Prajapati, Ashka;
Godbole, Koumudi;
Patel, Harsh

Publication type:

Article

Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.

Published in:

European Journal of Neurology, 2021, v. 28, n. 3, p. 945, doi. 10.1111/ene.14682

By:

Gayathri, Santhalingam;
Gowda, Vykuntaraju K.;
Udhayabanu, Tamilarasan;
O'Callaghan, Benjamin;
Efthymiou, Stephanie;
Varalakshmi, Perumal;
Benakappa, Naveen;
Houlden, Henry;
Ashokkumar, Balasubramaniem

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

A Diagnostic Conundrum: Myoclonic Jerks, Prematurity, Dysmorphism, and Global Developmental Delay.

Published in:

2025

By:

Gowda, Vykuntaraju K.;
Verghese, Archana

Publication type:

Letter

Polio-Like Illness; Acute Flaccid Myelitis, Following Dengue Fever.

Published in:

2025

By:

Gowda, Vykuntaraju K;
Bongu, Ramakrishna;
Kinhal, Uddhava

Publication type:

Letter

Two Molecular Diagnoses in an Individual with Hailey-Hailey Disease and Genetic Epilepsy with Febrile Seizure Plus.

Published in:

2025

By:

Rajeshwari, Mohan;
Nandy, Madhurima;
Gayathri, Santhalingam;
Rahul, Thangadurai;
Gowda, Vykuntaraju K.;
Varalakshmi, Perumal;
Ashokkumar, Balasubramaniem

Publication type:

Letter

Pediatric Onset Multiple Sclerosis (POMS).

Published in:

2025

By:

Gowda, Vykuntaraju K.;
Dhavale, Anjali;
Kinhal, Uddhava

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

Myelin Oligodendrocyte Glycoprotein Antibody Disease – MOGAD.

Published in:

2025

By:

Gowda, Vykuntaraju K.;
Kumar, Girish;
Kinhal, Uddhava V.;
Mahadevan, Anita

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

Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep's Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis.

Published in:

2024

By:

Gowda, Vykuntaraju K.;
Jetha, Kapil

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

Basal Ganglia Autoimmune Encephalitis Following Leptospirosis.

Published in:

Neurology India, 2022, v. 70, n. 5, p. 2121, doi. 10.4103/0028-3886.359156

By:

Gowda, Vykuntaraju K.;
Gupta, Priya;
Shivappa, Sanjay K.;
Bhat, Maya

Publication type:

Article

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

Profile of Central Nervous System Malformations in Children from a Tertiary Care Center in Southern India.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, n. 2, p. 120, doi. 10.4103/jpn.JPN_181_21

By:

Gowda, Vykuntaraju K.;
Sugumar, Kiruthiga;
Vamyanmane, Dhananjaya K.;
Shivappa, Sanjay K.

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

Prevalence of Peripheral Neuropathy in Children with Type 1 Diabetes Mellitus.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, p. 51, doi. 10.4103/jpn.JPN_179_21

By:

Daasara, Gururaju;
Gowda, Vykuntaraju K.;
Nanjundappa, Nijaguna;
Nagarajappa, Vani H.;
Shivappa, Sanjay K.

Publication type:

Article

Osteoporosis Pseudoglioma Syndrome.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 334, doi. 10.4103/jpn.JPN_107_20

By:

Gowda, Vykuntaraju K.;
Vegda, Hemadri;
Shivappa, Sanjay K.;
Benakappa, Naveen

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

Levetiracetam versus Fosphenytoin in Pediatric Convulsive Status Epilepticus: A Randomized Controlled Trial.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 252, doi. 10.4103/jpn.JPN_109_19

By:

Handral, Anusha;
Veerappa, Basavraja G.;
Gowda, Vykuntaraju K.;
Shivappa, Sanjay K.;
Benakappa, Naveen;
Benakappa, Asha

Publication type:

Article

Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 2, p. 196, doi. 10.4103/jpn.JPN_183_16

By:

Gowda, Vykuntaraju K.;
Srinivasan, Varun M.;
Bhat, Maya;
Benakappa, Asha

Publication type:

Article

Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 78, doi. 10.4103/1817-1745.205623

By:

Gowda, Vykuntaraju K.;
Amoghimath, Raghavendraswami;
Srinivasan, Varun M.;
Bhat, Maya

Publication type:

Article

Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 115, doi. 10.4103/1817-1745.205656

By:

Gowda, Vykuntaraju K.;
Raghavan, Varun V.;
Bhat, Meenakshi;
Benakappa, Asha

Publication type:

Article

Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas.

Published in:

2016

By:

Gowda, Vykuntaraju K.;
Basude, Anita;
Srinivas, Sahana M.;
Bhat, Maya

Publication type:

Case Study

Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 2, p. 185, doi. 10.4103/1817-1745.159212

By:

Gowda, Vykuntaraju K.;
Bhat, Ashwini;
Bhat, Maya;
Ramaswamy, Premalatha

Publication type:

Article