Dr. Vinayan K. P. currently serves as Professor at the Department of Neurolgy, School of Medicine, Kochi.


Publication Type: Journal Article

Year of Publication Publication Type Title


Journal Article

J. Stephen, Dr. Sheela Nampoothiri, Dr. Vinayan K. P., Yesodharan, D., Remesh, P., Gahl, W. A., and Malicdan, M. Christine, “Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.”, BMC Med Genet, vol. 19, no. 1, p. 80, 2018.[Abstract]

BACKGROUND: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG, encoding the three different polypeptide chains that comprise fibrinogen. Neurodevelopmental abnormalities have not been associated with fibrinogen deficiencies. In this study, we report an unusual patient with a combination of two independently inherited genetic conditions; fibrinogen deficiency and early onset cortical atrophy.


CASE PRESENTATION: The study describes a male child from consanguineous family presented with hypofibrinogenemia, diffuse cortical atrophy, microcephaly, hypertonia and axonal motor neuropathy. Through a combination of homozygosity mapping and exome sequencing, we identified bi-allelic pathogenic mutations in two genes: a homozygous novel truncating mutation in FGG (c.554del; p.Lys185Argfs*14) and a homozygous missense mutation in TBCD (c.1423G > A;p.Ala475Thr). Loss of function mutations in FGG have been associated with fibrinogen deficiency, while the c.1423G > A mutation in TBCD causes a novel syndrome of neurodegeneration and early onset encephalopathy.

CONCLUSIONS: Our study highlights the importance of homozygosity mapping and exome sequencing in molecular prenatal diagnosis, especially when multiple gene mutations are responsible for the phenotype.

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Journal Article

Y. Singh Sudan, Dr. Vinayan K. P., Roy, A. Grace, Wagh, A., Dr. Sudheeran Kannoth, and Patil, S., “Clinical Characteristics and Follow-up of South Indian Children with Autoimmune Encephalopathy.”, Indian J Pediatr, vol. 83, no. 12-13, pp. 1367-1373, 2016.[Abstract]

OBJECTIVE: To describe the clinical characteristics of a cohort of south Indian children with probable autoimmune encephalopathy from a tertiary care academic hospital and to compare this data with the existing literature. METHODS: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction were identified. Common infectious causes were excluded. Clinical characteristics, investigations, management and outcome were analyzed. RESULTS: Thirteen patients were included in the study; 12 were females (92.3 %) and mean age was 9.6 y. Most common presentation was behavior change (13 patients) followed by seizures (11 patients). Three patients showed lymphocytic pleocytosis in CSF and one patient had oligoclonal bands. Initial MRI was normal in all patients except in one. Most common EEG abnormality was mild background slowing. Only one child had ovarian tumor. S.NMDA receptor antibody was positive in 10 patients (83 %), and all of them received immunotherapy. Six out of 13 children were followed up for more than 1 y (mean - 21 mo). Recurrence was noted in 4 out of 6 patients (66 %). On last follow-up, good recovery was seen in 2 children (33 %), moderate disability in 3 (50 %) and severe disability in 1 (16 %). CONCLUSIONS: The clinical characteristics and outcome of one of the largest single center cohort of Indian children with autoimmune encephalopathy is reported. Autoimmune encephalopathy should be considered as a differential diagnosis in the acute and subacute encephalopathies of childhood and treating pediatrician should be aware of this entity. More »»


Journal Article

S. Gopinath, Roy, A. Grace, Dr. Vinayan K. P., Kumar, A., Sarma, M., Dr. Rajesh kannan, and Pillai, A., “Seizure outcome following primary motor cortex-sparing resective surgery for perirolandic focal cortical dysplasia.”, International Journal of Surgery, vol. 36, no. Pt B, pp. 466-476, 2016.[Abstract]

OBJECTIVES: We present a case series of patients who underwent perirolandic resection for medically refractory focal epilepsy due to focal cortical dysplasia (FCD). Our aim was to specifically evaluate the outcome of a surgical strategy intended for seizure freedom while preserving primary motor cortex function. MATERIALS AND METHODS: Thirteen patients undergoing perirolandic resection for pharmacoresistant focal epilepsy between 2010 and 2015 who demonstrated histological evidence of FCD were selected from a prospectively maintained database. Presurgical evaluation included video EEG telemetry and 3T MRI brain for all patients. Eight patients underwent interictal FDG PET scan. Intracranial EEG monitoring was done for 8 patients - six by conventional subdural grid and depth electrodes and two by Stereo EEG. Additional techniques included extraoperative cortical stimulation mapping, intraoperative electrocorticography (ECoG), intraoperative motor cortex mapping and awake surgery in various combinations. In all cases (lesional and nonlesional), resection was intentionally limited for anatomic preservation of the primary motor cortex. RESULTS: Amongst the thirteen patients with age ranging 14-44 years (mean 26.8 ± 9.2) 62% of them had daily seizures. MRI abnormalities were identified in 8 patients (62%), PET showed concordant findings in 7 patients (88%). When utilized, the mean duration of intracranial EEG recordings was 8.0 ± 7.2 days (range 2-23 days). All patients underwent a primary motor cortex-sparing resection of the suspected epileptogenic cortex. The mean postoperative follow up period was 23 months (range 7.5-62 months). Twelve out of 13 (92%) were seizure free (Engel 1) outcome at the last follow-up assessment; one patient had Engel 2a outcome at 28 months. Six patients (46%) had immediate new focal neurological deficits, however all six patients had recovered completely within three months. CONCLUSION: The surgical strategy of a primary motor cortex-sparing resective surgery for perirolandic FCD is associated with an excellent early seizure-freedom rate and no permanent neurological deficits. Since the ultimate goal of resective epilepsy surgery is seizure freedom with simultaneous functional preservation, similar long term outcome studies should ultimately guide the resection strategy. More »»

NIRF 2018
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