Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows
overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …

Background Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …

Purpose: To assess the add‐on efficacy of levetiracetam on the EEG, behavior, and cognition
of children with continuous spikes and waves during slow sleep (CSWS). Methods: Charts …

Background Magnetoencephalography (MEG) is an established method used to detect and
localize focal interictal epileptiform discharges (IEDs). Current MEG systems house …

Object The authors evaluate the incidence of persistent hydrocephalus after early surgical
management of pediatric posterior fossa tumors and the indicators for routine preoperative …

Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral
catecholamine deficiency. Tyrosine hydroxylase deficiency has been reported in fewer than …

We report on two sibs and two other unrelated patients with agenesis of corpus callosum,
oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal …

CACNA1A pathogenic mutations are involved in various neurological phenotypes including
episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (…