ICNC Abstracts, ICNC 2018

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Juberg-Hellman Syndrome :X linked female restricted epilepsy in an extended family in North Kerala
Anilkumar Elayadeth, Divya Pachat, Akbar Mohamed

Last modified: 2018-09-09


Epilepsy and mental retardation limited to females (EMRF) is an epilepsy syndrome characterized by sudden onset of  brief recurrent seizures generally lasting 1-5 minutes and repeating multiple times a day. It is caused by mutation in PCDH19 or protocadherin19 gene located on chromosome Xq22.1.We report a family having multiple affected female members. The index case is 6 month old girl with onset of seizure since neonatal period and developmental delay. We did a detailed 4 generation pedigree charting for the index case. An epileptic panel was positive for PCDH19 gene mutation. The same point mutation was noted on 13 other family members. Most of these patients were females and severity were markedly more in them. The mean age of seizure onset was early infancy .Seizure semiology included mostly tonic clonic, focal and tonic nocturnal seizures with persistent cognitive impairment in most of them. Seizure control is difficult requiring rational polypharmacy. Most common type of mutations resulted in protein termination and nonsense-mediated decay. EMRF due to protocadherin 19 mutation occuring in an extended family have so far not been reported in India. This case report highlights the significance of screening of PCDH19 deletion in suspected cases.


pcdh19; Juberg-Hellman Syndrome

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