Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.
Brain Dev
; 39(4): 345-348, 2017 Apr.
Article
in En
| MEDLINE
| ID: mdl-27876397
ABSTRACT
BACKGROUND:
Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular dysfunction. PATIENT DESCRIPTION A 2-day-old male infant presented with epileptic encephalopathy characterized by burst-suppression EEG background and tonic-clonic migrating partial seizures. The condition was refractory to phenobarbital, pyridoxine, pyridoxal phosphate and levetiracetam, but a dramatic response to an intravenous loading dose of phenytoin was documented by video-EEG monitoring. Over weeks phenytoin was successfully switched to carbamazepine to prevent seizure relapses associated with difficulty in maintaining proper blood levels of phenytoin. Genetic analysis identified a novel de novo heterozygous mutation (c.[4633A>G]p.[Met1545Val]) in SCN2A. At two years and three months of age the patient is still seizure-free on carbamazepine, although a developmental delay is evident.CONCLUSIONS:
Sodium channel blockers represent the first-line treatment for confirmed or suspected SCN2A-related epileptic encephalopathies. In severe cases with compatible electro-clinical features we propose a treatment algorithm based on a test trial with high dose intravenous phenytoin followed in case of a positive response by carbamazepine, more suitable for long-term maintenance treatment. Because of their rarity, collaborative studies are needed to delineate shared therapeutic protocols for EIEE based on the electro-clinical features and the presumed underlying genetic substrate.Key words
Full text:
1
Database:
MEDLINE
Main subject:
Phenytoin
/
Spasms, Infantile
/
Carbamazepine
/
Sodium Channel Blockers
/
NAV1.2 Voltage-Gated Sodium Channel
Type of study:
Guideline
/
Prognostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Brain Dev
Year:
2017
Type:
Article