Epilepsia. Official Journal of the International League Against Epilepsy

Seizures are a common manifestation of neurologic dysfunction in neonates and carry a high risk for mortality and adverse long-term outcomes. U.S. birth certificates are a potentially valuable source for studying the epidemiology of neonatal seizures. However, the quality of the data is understudied.

We reviewed all U.S. birth records from 2003 to 2013 to describe the following: (1) rates of missing data, (2) evidence of underreporting, and (3) effect of the 2003 revision of the birth ...

Seizures are a common manifestation of neurologic dysfunction in neonates and carry a high risk for mortality and adverse long-term outcomes. U.S. birth certificates are a potentially valuable source for studying the epidemiology of neonatal seizures. However, the quality of the data is understudied.

We reviewed all U.S. birth records from 2003 to 2013 to describe the following: (1) rates of missing data, (2) evidence of underreporting, and (3) effect of the 2003 revision of the birth ...

Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy against myoclonus and seizures.

We treated 11 patients with EPM1 mutations (6 F, 5 M, aged 13–62 years) and a 43-year-old man with de novo KCNC1 mutation. PER was introduced by 2 mg steps at 2–4 week intervals until 6 mg/day, with a possible dose reduction or dose increase.

Ten patients had a clear clinical response of myoclonus, and five were able ...

Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy against myoclonus and seizures.

We treated 11 patients with EPM1 mutations (6 F, 5 M, aged 13–62 years) and a 43-year-old man with de novo KCNC1 mutation. PER was introduced by 2 mg steps at 2–4 week intervals until 6 mg/day, with a possible dose reduction or dose increase.

Ten patients had a clear clinical response of myoclonus, and five were able ...

Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy against myoclonus and seizures.

We treated 11 patients with EPM1 mutations (6 F, 5 M, aged 13–62 years) and a 43-year-old man with de novo KCNC1 mutation. PER was introduced by 2 mg steps at 2–4 week intervals until 6 mg/day, with a possible dose reduction or dose increase.

Ten patients had a clear clinical response of myoclonus, and five were able ...

The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Missense variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS). Recently, protein truncating mutations ...

The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Missense variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS). Recently, protein truncating mutations ...

Epilepsy affects 60 million people worldwide. Despite the development of antiepileptic drugs, up to 35% of patients are drug refractory with uncontrollable seizures. Toll-like receptors (TLRs) are central components of the nonspecific innate inflammatory response. Because TLR3 was recently implicated in neuronal plasticity, we hypothesized that it may contribute to the development of epilepsy after status epilepticus (SE).

To test the involvement of TLR3 in epileptogenesis, we used the pilocarpine model for SE in TLR3-deficient mice and ...

Epilepsy affects 60 million people worldwide. Despite the development of antiepileptic drugs, up to 35% of patients are drug refractory with uncontrollable seizures. Toll-like receptors (TLRs) are central components of the nonspecific innate inflammatory response. Because TLR3 was recently implicated in neuronal plasticity, we hypothesized that it may contribute to the development of epilepsy after status epilepticus (SE).

To test the involvement of TLR3 in epileptogenesis, we used the pilocarpine model for SE in TLR3-deficient mice and ...

Research using neonatal electroencephalography (EEG) has been limited by a lack of a standardized classification system and interpretation terminology. In 2013, the American Clinical Neurophysiology Society (ACNS) published a guideline for standardized terminology and categorization in the description of continuous EEG in neonates. We sought to assess interrater agreement for this neonatal EEG categorization system as applied by a group of pediatric neurophysiologists.

A total of 60 neonatal EEG studies were collected from three institutions. All EEG ...