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  • Updated 01.06.2022
  • Released 03.15.1999
  • Expires For CME 01.06.2025

Epilepsy in infancy with migrating focal seizures

Introduction

Overview

Epilepsy in infancy with migrating focal seizures (EIMFS) is a devastating developmental and epileptic encephalopathy of early infantile onset characterized by the occurrence of very frequent migrating focal seizures arising from multiple independent foci in both hemispheres along with profound developmental impairment and often with regression. Seizure onset is in the first 6 months of life with a progressive increase in frequency and change in semiology over the first few months. Between 2011 and 2019 pathogenic variants in more than 24 genes have been implicated in this syndrome. However, most of the currently available reports show pathogenic genetic variants in the KCNT1 gene. Other major genes implicated are SCN2A, KCNQ2, ATP1A3, CDKL5, GABRA1, GABRB1, GABRB3, GABRG2, HCN1, SCN1A, SCN8A, SLC12A5, SLC25A22, and TBC1D24 and this list is expanding. Seizures are mostly refractory to currently available antiepileptic drugs. Novel precision medicine treatment options are being explored. In this article, the authors focus on etiology, clinical features, and advances in the management of epilepsy in infancy with migrating focal seizures.

Key points

• Epilepsy in infancy with migrating focal seizures is a rare, intractable, early infantile epileptic encephalopathy with onset in first 6 months of life.

• There are multifocal bilateral independent seizure foci and the seizures migrate from one hemisphere to the other.

• Severe global developmental delay or regression, along with acquired microcephaly, is noted in almost all cases.

• Variants in the KCNT1 gene are most frequently associated with epilepsy in infancy with migrating focal seizures.

Historical note and terminology

A report in 1995 by Coppola and colleagues described 14 infants who developed migrating partial seizures (18). The first seizures had occurred at the mean age of 3 months, and the full pattern developed between 1 to 10 months of age. Patients regressed developmentally. Three of them died between 7 months and 8 years of age. Seizures were controlled by medications in only 2 patients, and 3 patients resumed psychomotor development. Over the years, similar cases have been reported from Japan (46), Europe (59; 57; 28), Israel (27), the United States (37), India (47), and China (24).

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