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OBJECTIVE SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic(More)
BACKGROUND Recessive mutations in the five eucaryotic initiation factor 2B (eIF2B) subunits have been found in leukodystrophies of variable age at onset and severity. OBJECTIVES To evaluate the clinical spectrum of eIF2B-related disorders and search for a phenotype-genotype correlation. METHODS Ninety-three individuals (78 families) with an undetermined(More)
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism, striatal lesions are characteristically induced by acute encephalopathic crises during a finite period of brain development (age 3-36 months). The frequency of striatal injury is significantly less in patients diagnosed as(More)
Introducción l término neuritis óptica (NO) hace referen-cia a lesiones del nervio óptico de variada etiología que afecta a uno o ambos nervios ópti-Background: In pediatric optic neuritis usually occurs after an infectious event, with papilledema, bilateral and with good prognosis, with a low incidence of conversion to multiple sclerosis. The aim of this(More)
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