Research and Publications

PUBLICATIONS

1) Karnavat, Purva K; Hegde, Anaita U; Kulkarni, Shilpa; Kore, Roshan; Tulaskar, Bhakti; Sawant, Suvarna; Hajirnis, Omkar. Ketogenic diet in children with drug refractory epilepsy: Do we need 4:1 ketogenic ratio?. Journal of Pediatric Neurosciences 18(1):p 44-50, January-March 2023. | DOI: 10.4103/jpn.JPN_177_21

2) Taur PD, Gowri V, Pandrowala AA, Iyengar VV, Chougule A, Golwala Z, Chandak S, Agarwal R, Keni P, Dighe N, Bodhanwala M, Prabhu S, George B, Fouzia NA, Edison ES, Arunachalam AK, Madkaikar MR, Dalvi AD, Yadav RM, Bargir UA, Kambli PM, Rawat A, Das J, Joshi V, Pilania RK, Jindal AK, Bhat S, Bhattad S, Unni J, Radhakrishnan N, Raj R, Uppuluri R, Patel S, Lashkari HP, Aggarwal A, Kalra M, Udwadia Z, Bafna VS, Kanade T, Puel A, Bustamante J, Casanova JL and Desai MM (2021) Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India. Front. Immunol. 12:631298. doi: 10.3389/fimmu.2021.631298

3) Jadhav, T., Shah, P., Karnavat, P. K., & Hegde, A. U. (2019). Intrafamilial variation in clinical manifestations and response to salbutamol in siblings with congenital myasthenic syndrome caused by DOK7 mutations. Journal of the International Child Neurology Association, 1(1)

4) Nemani, T., Udwadia-Hegde, A., Keni Karnavat, P., Kashikar, R., & Epari, S. (2019). CLIPPERS Spectrum Disorder: A Rare Pediatric Neuroinflammatory Condition. Child Neurology Open. https://doi.org/10.1177/2329048X19831096

5) Hegde, Anaita U., Purva K. Karnavat, R. Vyas, Melissa L. DiBacco, P. Ellen Grant, and Phillip L. Pearl. GABA Transaminase Deficiency with Survival into Adulthood. Journal of Child Neurology 34, no. 4 (March 2019): 216–20. doi:10.1177/0883073818823359

6) Karnavat PK, Hegde AU, Kulkarni S. Quality of life in children with epilepsy in private and public tertiary care centres in India. International Journal of Epilepsy DOI: 10.1055/s-0038-1660774

7) Karnavat PK, Hegde AU, Nabi F. Incidence of vitamin D deficiency in paediatric neurology outpatient department of a tertiary care hospital. International Journal of Community Medicine and Public Health. 2018 Mar 23;5(4):1414-8.

8) Purva Keni Karnavat, Anaita Udwadia Hegde. Early use of Rituximab as a first line therapy in paediatric onset multiple sclerosis. Indian Journal of Medical Research and Pharmaceutical Sciences, 2018 Feb; 5(1): 1–10.

9) Hegde AU, Sanghvi KP, Karnavat PK, Jalan AB. BRCA1-associated ataxia telangiectasia mutated activation-1 mutation: An addition to the early infantile epileptic encephalopathy panel. J Clin Neonatol 2017;6:200-4

10) Palaniappan P, Premanand A, Agarwal I, Mathai S, Mathew L, Agarwal S, Keni P, Khubchandani R, Kumar S. Cryosupernatant and Immunosuppression as Effective Alternative Therapies for TTP in Three Pediatric SLE Patients. Indian Journal of Hematology and Blood Transfusion. 30. 232-6. 10.1007/s12288-014-0338-8.

POSTER PRESENTATION

1) Clinical and laboratory profile of chronic granulomatous disease at Bai Jerbai Wadia Hospital, Mumbai presented at European Society of Immunodeficiency Disorders

2) Clinical and laboratory profile of patients with severe combined immunodeficiency at a tertiary care hospital, Mumbai presented at European Society of Immunodeficiency Disorders

3) GM1 Gangliosidosis masquerading as Neurodegeneration with Brain Iron Accumulation Poster Presentation at International Congress on Child Neurology, Chennai

4) Role of Disease Modifying Therapy in Paediatric Multiple Sclerosis Poster presentation at AOCN, Lucknow

5) Role of Chaperone Therapy in Tay Sachs Poster Presentation at AOCN, Lucknow-awarded 2nd prize

6) BRAT1 mutation presenting as migrating partial epilepsy of infancy at CHILDNEUROCON 2017 at New Delhi

7) Arrested hydrocephalus with acute deterioration -What should be the management strategy? Presented at CHILDNEUROCON 2017 at New Delhi

8) Epileptic encephalopathies: New metabolic aetiologies presented at Neuropedicon 2017 at Ahmedabad

9) Creatine transporter (CT) deficiency- Treatable aetiology of Autism presented at Neuropedicon 2017 at Ahmedabad

10) Quality of life and adverse effects in children with epilepsy: Comparison in private and public tertiary centres presented at ECON 2017 at Patna

11) Quality of Life and Adverse Effects in Children with Epilepsy- Comparison In Private And Public Tertiary Centres in India presented at Epilepsy Society of Australia 31st Annual Scientific Meeting

12) Evaluation of Ketogenic Diet in Indian Children with Refractory Epilepsy in an Outpatient Department presented at Epilepsy Society of Australia 31st Annual Scientific Meeting

13) Quality of Life and Adverse Effects in Children with Epilepsy- Comparison in Private and Public Tertiary Centres in India- awarded 1st prize at poster presentation, EMBICON 2017, Mumbai

14) Poster presentation at ICNC, Mumbai, November 2018

a) Changing face of Pediatric Neurotuberculosis.

b) Paediatric Neurology Services in Rural Maharashtra India an 8-year Trend.

c) Utility of Deep Brain Stimulation in Pantothenate Kinase associated Neurodegeneration(PKAN).

d) GABA Transaminase Deficiency Disorder in an Indian Family- Report of two new cases.Diagnostic Potential of Next Generation sequencing in suspected Genetic Neuromuscular disorders.

e) A New Neuroinflammatory Disorder in Children: Chronic lymphocytic Inflammation with pontine perivascular enhancement responsive to steroids(CLIPPERS)- CASE REPORT

15) Poster Presentation at (ISIEM), Pune, January 2019.

a) Phenotypic Spectrum of Cobalamin Metabolism Disorders- A Case Series.

b) Epilepsy in Inherited Metabolic Disorders: A Tertiary Centre Experience.

16) Etiological Spectrum of Paediatric Movement Disorders with Epilepsy at Symposium On Paediatric Movement Disorders 2019- Barcelona

PAPER PRESENTATION

1) Evaluation of Ketogenic Diet in Indian Children: Platform presentation at AOCN, Lucknow in February 2016- awarded 2nd prize

2) Quality of life and adverse effects in children with epilepsy in private and public tertiary centres presented at a platform at CHILDNEUROCON 2017 at New Delhi

3) Case presentation on Dok7 mutation in congenital myasthenia gravis at Neuromuscular workshop Pune, February 2017

4) Evaluation of Ketogenic Diet In Indian Children With Refractory Epilepsy In An Outpatient Department- awarded 1st prize at platform presentation, EMBICON 2017, Mumbai

5) Case presentation on posterior quadrantic cortical dysplasia in 3 months old at Meet the Experts at National Pediatric Epilepsy Surgery Symposium, Pune, April 2018

6) Changing Face of Neurotuberculosis in Children at Life at War: Series 4, Bai Jerbai Wadia Hospital for Children, Mumbai, October 2018

7) Paper presentation at ICNC, Mumbai, November 2018Genetic Spectrum of Pediatric Movement Disorders

8) Ketogenic Diet- Do We Need 4:1 Ratio

9) Epilepsy Genetics – A New Weapon in Our Armamentarium!

RESEARCH WORK

1) DNB Thesis: Prevalence of Vitamin D Deficiency in Pediatric Neurology Outpatient Department in a Tertiary Care Centre under the guidance of Dr. Fazal Nabi and Dr. Anaita U. Hegde

2) Academic Study on “A Study On Efficacy and Tolerability of Outpatient-Based Ketogenic Diet Therapy in 117 Indian Children with Drug Resistant Epilepsy”

3) Academic Study of “Quality of life in children with epilepsy in private and public tertiary care Centres in India”

4) Sub-investigator in A Randomized, Double-Blind, Placebo-Controlled, Six-Month Study to Evaluate the Safety, Tolerability and Preliminary Evidence of Efficacy of Sarizotan on Respiratory Symptoms in Patients with Rett Syndrom

5) Sub-investigator in A multi-centre, randomized, double-blind, placebo-controlled trial to evaluate the effects of intra-erythrocyte dexamethasone sodium phosphate on neurological symptoms in patients with ataxia telangiectasia

6) Academic study on Is there a role of Gabapentin in dystonic cerebral palsy?Academic study on Quality of Life in Children with Cerebral Palsy – A Parent and Child’s Perspective