Sundaram S - Search Results

1

Challenges in genetic testing for metabolic causes of developmental epileptic encephalopathy- relevance of genotype-phenotype correlations.

Jose M, Fasaludeen A, Pavuluri H, Rudrabhatla PK, Chandrasekharan SV, Jose J, Banerjee M, Sundaram S, Radhakrishnan A, Menon RN. Jose M, et al. Among authors: sundaram s. Seizure. 2024 Apr;117:307-308. doi: 10.1016/j.seizure.2024.02.012. Epub 2024 Feb 20. Seizure. 2024. PMID: 38402011 No abstract available.

2

Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.

Sundaram S, Nair M, Namboodhiri S, Menon RN. Sundaram S, et al. Neurol India. 2018 Nov-Dec;66(6):1802-1804. doi: 10.4103/0028-3886.246264. Neurol India. 2018. PMID: 30504584 Free article. No abstract available.

3

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

Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, Naik N, Kamate M, Devi ARR, Mohammed Kunju PA, Nair M, Hegde AU, Kumar MP, Sundaram S, Tilak P, Puri RD, Shah K, Sheth J, Hasan Q, Sheth F, Agrawal P, Katragadda S, Veeramachaneni V, Chandru V, Hariharan R, Mannan AU. Ganapathy A, et al. Among authors: sundaram s. J Neurol. 2019 Aug;266(8):1919-1926. doi: 10.1007/s00415-019-09358-1. Epub 2019 May 8. J Neurol. 2019. PMID: 31069529

4

Clinico-Genotypic Correlation: Recurrent Attacks of Paralysis and Skeletal Muscle SCN4A Mutation (p.Ile693Thr).

Nanda S, Tandon V, Menon R, Sundaram S, Nair M. Nanda S, et al. Among authors: sundaram s. J Clin Neuromuscul Dis. 2019 Sep;21(1):42-46. doi: 10.1097/CND.0000000000000245. J Clin Neuromuscul Dis. 2019. PMID: 31453854

5

Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

Vedartham V, Sundaram S, Nair SS, Ganapathy A, Mannan A, Menon R. Vedartham V, et al. Among authors: sundaram s. Ophthalmic Genet. 2019 Aug;40(4):376-379. doi: 10.1080/13816810.2019.1666414. Epub 2019 Sep 16. Ophthalmic Genet. 2019. PMID: 31525130

6

Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.

Nambiar PN, Kumar S S, Menon R, Nair SS, Madhavilatha GK, Sundaram S. Nambiar PN, et al. Among authors: sundaram s. Ophthalmic Genet. 2020 Feb;41(1):99-100. doi: 10.1080/13816810.2020.1727537. Epub 2020 Feb 20. Ophthalmic Genet. 2020. PMID: 32077773 No abstract available.

7

Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

Karunakaran S, Menon RN, Nair SS, Santhakumar S, Nair M, Sundaram S. Karunakaran S, et al. Among authors: sundaram s. Clin EEG Neurosci. 2020 Nov;51(6):390-398. doi: 10.1177/1550059420909673. Epub 2020 Mar 2. Clin EEG Neurosci. 2020. PMID: 32114799

8

Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.

Mitta N, Menon RN, McTague A, Radhakrishnan A, Sundaram S, Cherian A, Madhavilatha GK, Mannan AU, Nampoothiri S, Thomas SV. Mitta N, et al. Among authors: sundaram s. Epilepsy Res. 2020 Oct;166:106398. doi: 10.1016/j.eplepsyres.2020.106398. Epub 2020 Jun 18. Epilepsy Res. 2020. PMID: 32593896

9

Adult-onset subacute sclerosing panencephalitis.

Nair SS, Vysakha KV, Menon RN, Sundaram S. Nair SS, et al. Among authors: sundaram s. Pract Neurol. 2021 Apr 13:practneurol-2020-002880. doi: 10.1136/practneurol-2020-002880. Online ahead of print. Pract Neurol. 2021. PMID: 33850035

10

Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation.

Chandrasekharan SV, Sundaram S, Malaichamy S, Poyuran R, Nair SS. Chandrasekharan SV, et al. Among authors: sundaram s. Neuromuscul Disord. 2021 Sep;31(9):886-890. doi: 10.1016/j.nmd.2021.06.003. Epub 2021 Jun 11. Neuromuscul Disord. 2021. PMID: 34244021

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