Ana Lucila Moreira

TL;DR: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+).

TL;DR: PCDH19 is emerging as a major gene for infantile-onset familial or sporadic epilepsy in female patients with or without mental retardation, and epileptic encephalopathy with DS-like features and focal epilepsy of variable severity were the associated phenotypes and were equally represented.

TL;DR: This paper identified four specific, dominantly acting serine palmitoyltransferase (SPTLC1) variants that result in unrestrained sphingoid base synthesis cause a monogenic form of ALS and designed small interfering RNAs that selectively target the SPTLC 1 ALS allele for degradation, leave the normal allele intact and normalize sphingolipid levels in vitro.

TL;DR: This work correlates anatomic details of the hamartoma and the clinical and neurophysiologic manifestations of the associated epilepsy with typical clinical, electrophysiologic, and behavioral manifestations refractory to drug therapy and with unfavorable evolution.

TL;DR: An expert task force of the Latin American Chapter of the International Federation of Clinical Neurophysiology is decided to carry out these guidelines for the protection of patient and healthcare professionals conducting clinical neurophysiological studies.