Clinical management of epileptic encephalopathies of childhood and infancy

Abstract

Epileptic encephalopathies represent a group of devastating epileptic disorders that appear early in life and are characterized by pharmacoresistant generalized or focal seizures, persistent severe EEG abnormalities, and cognitive dysfunction or decline. The ictal and interictal epileptic discharges are age-specific and are either the main cause or contribute to cognitive deterioration in the idiopathic or symptomatic group respectively. Despite choosing the most appropriate anti-seizure drugs for the seizure-type and syndrome the results are often disappointing and polytherapy and/or alternative therapy becomes unavoidable. In those cases, consideration should be given to the quality of life of the child and carers. In this review we will discuss the clinical and EEG characteristics, evolution and management of age-related epileptic encephalopathies, recognized by the International League Against Epilepsy.

Keywords::

• cognitive deterioration
• electroclinical seizures
• encephalopathy
• pharmacoresistant epilepsy

Financial & competing interests disclosure

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Epileptic encephalopathies in children are the most devastating epileptic disorders.

• A high proportion of these children die early and those who survive exhibit severe neurological deficits.

• There is no evidence to suggest that any one drug is more efficacious than another. The sporadic successes indicate etiological heterogeneity even within the same syndrome.

• Existing advances in genetics and functional neuroimaging have offered new information related to the underlying pathophysiological mechanisms involved.

• Dravet syndrome is the prototype where SCN1A defect has been confirmed. Using disease-specific induced pluripotent stem cell technology is an enormous step forward.

Notes

OS: Ohtahara syndrome; EME: Early myoclonic encephalopathy; S-B: Suppression-burst; ARX: Aristaless-related homeobox.