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BACKGROUND Rett syndrome is an uncommon neurodevelopmental disorder with an incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified. This study uses data from a large international database, InterRett, to examine(More)
Malignant migrating partial seizures in infancy is a rare, age-specific epileptic encephalopathy. It is characterized by onset before age 6 months, virtually continuous multifocal seizures with ictal electrical encephalographic activity shifting from one hemisphere to the other, no identifiable immediate or remote causes, intractability to antiepileptic(More)
PURPOSE Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A.(More)
OBJECTIVE Rare copy number variants (CNVs)--deletions and duplications--have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed. METHODS We(More)
We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified missense mutations dramatically reduce ASNS protein abundance,(More)
To assess the efficacy, safety, and tolerability of topiramate in infants younger than 24 months of age, we conducted an open-label, multicenter chart review study of infants who received topiramate. Twenty-eight patients were evaluated. All had refractory epilepsy. The mean age of seizure onset was 3.8 months (range 0-10 months). Refractory infantile(More)
The severe refractory type of status epilepticus is very rare in the pediatric population. Eight children with the severe refractory type of status epilepticus owing to presumed encephalitis are described. The age at the onset of status epilepticus of the eight study children ranged between 2.5 and 15 years. Seven of the eight children presented with fever(More)
OBJECTIVES To determine the response rate of patients with juvenile myoclonic epilepsy (JME) to lamotrigine (LTG) and identify predictive factors for treatment response. MATERIAL AND METHODS Medical records of 62 patients with JME were reviewed for demographic, clinical, and EEG parameters. We determined clinical response to LTG and compared LTG(More)
Patients with Sturge-Weber syndrome often present with seizures during the first year of life. Currently, only patients with clinically significant seizures who do not respond to medical treatment are candidates for early epileptic surgery. However, a delay of surgical treatment may result in cognitive deterioration. We studied the correlation between(More)
Please cite this article in press as: I. Tein et al., Short-chain acyl-CoA dehydrogenase gene mutation (319C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi. Abstract We report seven children (4 male, 3 female), three homozygous for 319C>T mutation and four compound heterozygous for the 319C>T and 625G>A variant in the(More)