Last modified: 2018-09-09
Abstract
Introduction: To describe clinical and electrophysiological observations in a 11year girl of Indian origin with Congenital Mirror Movements and epilepsy in association with mutation in gene associated Early infantile epileptic encephalopathy-14 i:e with KCNT1 gene.
Methods: Retrospective chart-review
Case Description/Results: The proband,second born to non-consanguineous parents, presented with the complaint that when she attempted to move one hand, her contralateral hand, too, moved in the same direction along with clumsiness in performing skilled dissociated movements of the two hands since infancy. Neurodevelopmentally, the girl was normal and her parents had no history of these movements. She also was suffering from recurrent episodes of seizures since 7 months of age with semiology of occipital lobe origin and controlled on dual AEDs. Examination showed mirror movements of left side, consisting in the involuntary reproduction of the right motor activities; these involved mainly the distal parts of the upper limbs. Other detailed neurological evaluation was normal. Electromyography revealed motor unit potentials in contralateral homologous muscle groups with voluntary contraction of distal hand muscles.EEG recordings showed normal background activity with sleep activation of independent left and bilateral posterior head region spike and wave discharges with normal brain MRI.Clinical Exome analysis revealed heterozygous missense variation in KCNT1 gene which has not been reported till now in association with mirror movements.
Conclusion: Congenital mirror movements are rare developmental movement phenomenon is usually isolated, but also associated with genetic mutation. Here we expand the genetic association of this rare entity