Karthik Muthusamy, M.B.B.S.

  1. Medical Geneticist

Publications

  1. Happ HC, Sadleir LG, Zemel M, de Valles-Ibanez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Moller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares N, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedlackova L, Sterbova K, Vlckova M, Lassuthova P, Jahodova A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5. Neurology. 2022 Oct 28 [Epub ahead of print]
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  2. Kotambail A, Selvam P, Muthusamy K, Thomas M, Sudhakar SV, Ghati C, Danda S, Arunachal G. Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event. Eur J Hum Genet. 2022 Oct 7 Epub 2022 Oct 07
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  3. Karthik, Sayli, Ajith, Vivek. Perirolandic sign and crossed cerebellar diaschisis in POLG-related disorder Annals of Indian Academy of Neurology. 2022.
  4. Popiela TJ, Krzysciak W, Pilato F, Ligezka A, Bystrowska B, Bukowska-Strakova K, Brzegowy P, Muthusamy K, Kozicz T. The Assessment of Endovascular Therapies in Ischemic Stroke: Management, Problems and Future Approaches. J Clin Med. 2022 Mar 28; 11 (7)
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  5. Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D. Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums. Am J Med Genet A. 2022 Mar; 188 (3):911-918 Epub 2021 Nov 19
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  6. Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquiere B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Ann Neurol. 2021 Dec; 90 (6):887-900 Epub 2021 Oct 26
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  7. Jain S, Muthusamy K, Bernice TS, Pansuriya H, Punnen A, Kumar S, Thomas MM. A Rare Treatable and Under Recognized Cause of Recurrent Convexity Subarachnoid Hemorrhage: Lupus Anticoagulant Hypoprothombinemia Syndrome. Ann Indian Acad Neurol. 2021 Nov-Dec; 24 (6):986-989 Epub 2021 Apr 14
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  8. Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Mol Genet Genomic Med. 2021 Oct; 9 (10):e1799 Epub 2021 Sept 12
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  9. Muthusamy K, Boyer S, Patterson M, Bierau J, Wortmann S, Morava E. Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency. Neurology. 2021 Jul 06; 97(1):e109-e110. Epub 2021 Feb 16.
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  10. Sathishkumar D, Muthusamy K, Gupta A, Malhotra M, Thomas M, Koshy B, Jasper A, Danda S, George R. Co-occurrence of Aicardi-Goutieres syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India. Clin Exp Dermatol. 2021 Jun; 46 (4):704-709 Epub 2021 Jan 04
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  11. Biswas A, Malhotra M, Mankad K, Carney O, D'Arco F, Muthusamy K, Sudhakar SV. Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders-a practical introductory guide. Transl Pediatr. 2021 Apr; 10 (4):1201-1230
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  12. Muthusamy K, Fasolino JP, Driver-Dunckley ED, Dhamija R. Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas. Ann Neurol. 2021 Mar; 89 (3):623-624 Epub 2021 Jan 04
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  13. Muthusamy K, Mrugala MM, Bendok BR, Dhamija R. LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis. Mol Genet Genomic Med. 2021 Jan; 9 (1):e1560 Epub 2020 Dec 02
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  14. Muthusamy K, Hanna C, Johnson DR, Cramer CH, Tebben PJ, Libi SE, Poling GL, Lanpher BC, Morava E, Schimmenti LA. Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. Am J Med Genet A. 2021 Jan; 185 (1):261-266 Epub 2020 Oct 24
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  15. Varala S, George R, Mathew L, Russell P, Koshy B, Oommen SP, Thomas M, Muthusamy K, Yoganathan S, Jeyaseelan L, Muliyil J. The Diagnostic Value of Congenital and Nevoid Cutaneous Lesions Associated with Autism Spectrum Disorders in Indian Children- A Case-Control Study. Indian Dermatol Online J. 2021 Jan-Feb; 12 (1):84-89 Epub 2021 Jan 16
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  16. Schultz-Rogers L, Muthusamy K, Pinto E Vairo F, Klee EW, Lanpher B. Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report. BMC Med Genet. 2020 Nov 10; 21 (1):219
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  17. Benjamin RN, Thomas M, Muthusamy K, Yoganathan S, Mathew V, Chacko AG, Prabhu K, Chacko G. Age-Dependent Reduction in Severity and Discrete Topographical Patterns in Rasmussen Encephalitis: A Link to Cortical Maturation? Pediatr Neurol. 2020 Nov; 112:25-33 Epub 2020 Aug 11
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  18. Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. Am J Med Genet A. 2020 Oct; 182 (10):2442-2449 Epub 2020 Aug 20
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  19. Malik P, Muthusamy K, Mankad K, Shroff M, Sudhakar S. Solving the hypomyelination conundrum - Imaging perspectives. Eur J Paediatr Neurol. 2020 Jul; 27:9-24 Epub 2020 Apr 22
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  20. Wilton KM, Morales-Rosado JA, Selcen D, Muthusamy K, Ewing S, Agre K, Nickels K, Klee EW, Ho ML, Morava E. Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1. JIMD Rep. 2020 May; 53 (1):22-28 Epub 2020 Mar 20
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  21. Arthur A, Sivadasan A, Mannam P, Prabakhar AT, Aaron S, Mathew V, Karthik M, Benjamin RN, Iqbalahmed SA, Rynjah GL, Alexander M. Tolosa-Hunt Syndrome: Long-Term Outcome and Role of Steroid-Sparing Agents. Ann Indian Acad Neurol. 2020 Mar-Apr; 23 (2):201-205 Epub 2020 Feb 25
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  22. Valmiki RR, Venkatesalu S, Chacko AG, Prabhu K, Thomas MM, Mathew V, Yoganathan S, Muthusamy K, Chacko G, Vanjare HA, Krothapalli SB. Phosphoproteomic analysis reveals Akt isoform-specific regulation of cytoskeleton proteins in human temporal lobe epilepsy with hippocampal sclerosis. Neurochem Int. 2020 Mar; 134:104654 Epub 2019 Dec 27
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  23. Chhabda S, Malik P, Reddy N, Muthusamy K, Mirsky D, Sudhakar S, Mankad K. Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics. Front Neurol. 2020; 11:627 Epub 2020 Aug 04
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  24. Kamdar P, Thomas M, Yoganathan S, Muthusamy K, Koshy B, Philip Oommen S, Aaron R, Barney A, Susan C Abraham S, Danda S. Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent. J Genet. 2020; 99
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  25. Sudhakar SV, Muthusamy K, Arunachal G, Shroff M. Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians. Indian J Pediatr. 2019 Oct; 86 (10):923-938 Epub 2019 June 13
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  26. Sivadasan A, Alexander M, Aaron S, Mathew V, Nair S, Muthusamy K, Prabhakar AT, Benjamin RN, Shaikh A, Rynjah G. Comorbidities and Long-Term Outcomes in a Cohort with Myasthenic Crisis: Experiences from a Tertiary Care Center. Ann Indian Acad Neurol. 2019 Oct-Dec; 22 (4):464-471 Epub 2019 Oct 25
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  27. Abraham AP, Thomas MM, Mathew V, Muthusamy K, Yoganathan S, Jonathan GE, Prabhu K, Daniel RT, Chacko AG. EEG lateralization and seizure outcome following peri-insular hemispherotomy for pediatric hemispheric epilepsy. Childs Nerv Syst. 2019 Jul; 35 (7):1189-1195 Epub 2019 Jan 30
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  28. Muthusamy K, Thomas M, Yoganathan S, Sudhakar SV. Clinical Profile, Prognostic Indicators, and Therapeutic Outcomes of Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: A Single-Center Experience from South India. Ann Indian Acad Neurol. 2019 Jul-Sep; 22 (3):295-301
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  29. Malik P, Muthusamy K, C M, Danda S, Sudhakar SV. Teaching NeuroImages: Wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis. Neurology. 2019 Apr 30; 92 (18):e2176-e2177
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  30. Abiramalatha T, Arunachal G, Muthusamy K, Thomas N. A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation. Eur J Med Genet. 2019 Apr; 62 (4):248-253 Epub 2018 July 31
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  31. Muthusamy K, Sudhakar SV, Christudass CS, Chandran M, Thomas M, Gibikote S. Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort. J Clin Imaging Sci. 2019; 9:3 Epub 2019 Feb 27
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  32. Muthusamy K, Sudhakar SV, Thomas M, Yoganathan S, Christudass CS, Chandran M, Panwala H, Gibikote S. Revisiting magnetic resonance imaging pattern of Krabbe disease - Lessons from an Indian cohort. J Clin Imaging Sci. 2019; 9:25 Epub 2019 May 24
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  33. Sudhakar SV, Muthusamy K, Shroff M. Imaging of Childhood Inflammatory Brain Diseases. Top Magn Reson Imaging. 2018 Dec; 27 (6):409-431
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  34. Aaron S, Arthur A, Prabakhar AT, Mannam P, Shyamkumar NK, Mani S, Mathew V, Peter J, Sivadasan A, Alexander A, Karthik M, Benjamin RN, Alexander M. Spectrum of Visual Impairment in Cerebral Venous Thrombosis: Importance of Tailoring Therapies Based on Pathophysiology. Ann Indian Acad Neurol. 2017 Jul-Sep; 20 (3):294-301
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  35. Sivadasan A, Muthusamy K, Patel B, Benjamin RN, Prabhakar AT, Mathew V, Aaron S, Alexander M. Clinical Spectrum, Therapeutic Outcomes, and Prognostic Predictors in Sjogren's Syndrome-associated Neuropathy. Ann Indian Acad Neurol. 2017 Jul-Sep; 20 (3):278-283
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  36. Aaron S, Mani S, Prabhakar AT, Babu PS, Kumar S, Benjamin RN, Sivadasan A, Muthusamy K, Patil AK, Mathew V, Alexander M. Sonothrombolysis for acute ischemic stroke - Break on through to the other side. Neurol India. 2017 Jan-Feb; 65 (1):52-57
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  37. Sudhakar SV, Muthusamy K, Mani S, Gibikote S, Shroff M. Imaging in Pediatric Demyelinating and Inflammatory Diseases of Brain- Part 2. Indian J Pediatr. 2016 Sep; 83 (9):965-82 Epub 2016 Apr 30
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  38. Sudhakar SV, Muthusamy K, Mani S, Gibikote S, Shroff M. Imaging in Pediatric Demyelinating and Inflammatory Diseases of the Brain- Part 1. Indian J Pediatr. 2016 Sep; 83 (9):952-64 Epub 2015 Dec 04
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  39. John D, Muthusamy K, Bandla B, Sudhakar SV, Thomas M. Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series. J Clin Diagn Res. 2016 May; 10 (5):NR01-4 Epub 2016 May 01
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  40. Sivadasan A, Muthusamy K, Patil AK, Mathew V, Alexander M. Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis. Neurology. 2016 Apr 5; 86 (14):e147-e150
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  41. Jena SS, Alexander M, Aaron S, Mathew V, Thomas MM, Patil AK, Sivadasan A, Muthusamy K, Mani S, Rebekah JG. Natural history of multiple sclerosis from the Indian perspective: Experience from a tertiary care hospital. Neurol India. 2015 Nov-Dec; 63 (6):866-73
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  42. Patil AK, Muthusamy K, Aaron S, Alexander M, Kachare N, Mani S, Sniya S. A case of Erdheim Chester disease with central nervous system involvement. Ann Indian Acad Neurol. 2015 Jul-Sep; 18 (3):338-41
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  43. Muthusamy K, Sudhakar SV, Yoganathan S, Thomas MM, Alexander M. Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association. J Child Neurol. 2015 Jun; 30 (7):937-41 Epub 2014 Sept 11
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  44. Dutta AK, Danda S, Muthusamy K, Alexander M, Sudhakar SV, Hansdak S, Bandyopadhyay R, Bakhya Shree GB, Rekha L. Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. Mol Genet Metab Rep. 2015 Jun; 3:33-5 Epub 2015 Mar 23
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  45. Muthusamy K, Yoganathan S, Thomas MM, Alexander M, Verghese VP. Subacute sclerosing panencephalitis in a child with human immunodeficiency virus (HIV) infection on antiretroviral therapy. Ann Indian Acad Neurol. 2015 Jan-Mar; 18 (1):96-8
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  46. Muthusamy K, Thomas MM, George RE, Alexander M, Mani S, Benjamin RN. Siblings with fucosidosis. J Pediatr Neurosci. 2014 May; 9 (2):156-8
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PST-20521679