Inherited metabolic diseases usually present a complex clinical picture in which seizures are
one of various neurological manifestations, which include developmental delays/regression …

Inborn errors of metabolism comprise a large class of genetic diseases involving disorders
of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any …

Inherited metabolic epilepsies (IMEs) represent inherited metabolic disorders predominately
presenting with seizures. While most IMEs are currently managed with symptomatic and …

We provide a comprehensive overview of inherited metabolic disorders (IMDs) in which
epilepsy is a prominent manifestation. Our unique database search has identified 256 IMDs …

Although inborn errors of metabolism are rarely found to be the cause of epilepsy, seizures
are a frequent symptom in metabolic disorders. In a few of these, epilepsy responds to …

Opinion statement In the absence of a culprit epileptogenic lesion, pharmacoresistant
seizures should prompt the physician to consider potentially treatable metabolic epilepsies …

Metabolic diseases should always be considered when evaluating children presenting with
seizures. This is because many metabolic disorders are potentially treatable and seizure …

Seizures are a frequent symptom in metabolic disorders, although metabolic disorders are
rarely found to be the cause of epilepsy. A precise diagnosis might not only influence …

Results: This review presents the basic principles underlying the recognition and treatment
of epilepsy caused by neurometabolic diseases. These disorders are divided (purely for the …

Understanding the genetic architecture of metabolic epilepsies is of paramount importance,
both to current clinical practice and for the identification of further research directions. The …