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Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy (EAST syndrome), also known as Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance (SeSAME syndrome) is a rare autosomal recessive syndrome due to homozygous missense mutations of the KCNJ10 gene.

We report two siblings from India, both presented with early-onset epilepsy, developmental delay, hearing impairment, ataxia, and electrolyte imbalances suggestive of tubulopathy - Gitelman syndrome.

First born boy, presented at age 9 years, with onset of epilepsy at 12 months of age. The younger sibling, a girl, presented at 2½ years, with infrequent febrile and afebrile generalized seizures. Both demonstrated delayed milestones and   had mild sensorineural hearing loss.

They had multiple brain magnetic resonance imaging studies with relatively similar distribution of abnormalities involving the dentate nuclei, brainstem, thalami, basal ganglia, and cerebral white matter, with mild progression of the neuroimaging findings over time. Epilepsy was refractory in both of them at last follow up.

The constellation of multi-organ involvement was characteristic of EAST syndrome, and mutation analysis of the KCNJ10 gene confirmed the diagnosis. Neuroimaging showed characteristic features that supported the diagnoses.


EAST syndrome, SeSAME syndrome, KCNJ10, Topiramate and Zonisamide

Article Details

Author Biography

Lokesh Lingappa

Dr Lokesh Lingappa is a Consultant Child and Adolescent Neurologist at Rainbow Children’s Hospital, Hyderabad.

He completed his medical school from Karnatak Medical College, Hubli, Karnataka. He did his Pediatric Training from Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh and trained in neurology (DM Neurology) at National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru. He pursued his passion to further pediatric neurology training and completed MRCPCH from UK and was trained at Birmingham Children’s Hospital, Frenchay Hospital, Bristol, UK and Bristol Children’s Hospital as Fellow in Pediatric Neurology.

It was the vision to develop high quality Pediatric Neurology services brought him back to India. His efforts for the last 6 has culminated with the presence of pediatric neurology department across all the branches of Rainbow Children’s Hospital with two full time neurologists, a metabolic and genetic specialist and a child psychiatrist. The services are fully supported by senior Rehab team members.

Dr. Lingappa was awarded the Best Outgoing Neurology Student (Dr Anisya Vasanth Award) at NIMHANS. He also received Travel Fellowship Grant Award at International Child Neurology Conference (ICNA) held at Montreal, Canada in 2006.

He has many national and international publications and presentations to his credit. He has authored few chapters in books released by Indian Academy of Pediatrics. He has three best poster awards at national and international level conferences.

Dr. Lingappa’s research interests range from neonatal neurological disorders, infantile epilepsy, intensive care neurology and long term outcomes of acute neurological disorders. He is actively involved in educating pediatricians and primary care team about essentials of management.

Dr. Lingappa is a member of various associations and bodies namely, International Child Neurology Association(ICNA), Association of Child Neurology, Indian Academy of Neurology (IAN) India - LM 622, and Indian Academy of Paediatrics. He is also the Organising Secretary of Paediatric Epilepsy Society of Hyderabad (PESH), Hyderabad.

How to Cite
Lingappa, L., Reddy, N., Varma, D. R., Paruchuri, B. M. ., Konanki, R., Kleta, R., & D, B. (2023). EAST syndrome: Refractory Epilepsy on Long term follow up : East syndrome. Journal of the International Child Neurology Association, 1(1).


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