Seizure

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disease associated with mutations of ASAH1 gene, which encodes N-acylsphingosine amidohydrolase 1 [1]. It is characterized by progressive proximal muscle weakness due to anterior horn cell degeneration, followed by myoclonic seizures and cognitive decline [1]. Age of onset can range from childhood to adolescence [1,2]. In addition to myoclonic seizures, absence, atonic, and rare generalized tonic-clonic seizures have been described [1,2].

Intravenous (IV) administration of antiepileptic drugs is useful in patients who are unable to take oral medication, and in emergency situations such as seizure clusters (SC), status epilepticus (SE), or when rapid introduction of a new agent is necessary because seizures are uncontrolled on baseline therapy. Lacosamide (LCM), a new anti-epileptic drug with a mechanism of action utilizing the slow inactivation of sodium channels [1], is also available in an IV formulation. Several studies have showed the efficacy of IV ...