Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel s...

Transient neonatal non-ketotic hyperglycinaemia (NKH) is a rare metabolic disorder in neonates which is indistinguishable from its classic form during the neonatal period. To our knowledge, only a few cases (about 14) of transient neonatal hyperglycinaemia have been reported. We report a 2 day old neonate who presented with clinical (seizure) and biochemical (raised CSF/Plasma glycine ratio) fe...

Despite the effective use of antiepileptic drugs (AEDs) for epilepsy, therapeutic failure occurs in 30% of patients. Novel approaches are targeting the inhibition of epileptogenesis. N-acetyl-5-methoxytryptamine (melatonin) is an indoleamine produced mainly by the pineal gland, and has been observed to exhibit antiepileptic and neuroprotective effects in experimental and clinical investigations...

BACKGROUND The patients with early-onset epileptic encephalopathy (EOEE) suffer from neurodevelopmental delay. The aim of this study was to analyze the clinical manifestations and amplitude-integrated encephalogram (aEEG) characteristics of infants with EOEE with onset within the neonatal period, to make early diagnosis to improve the prognosis. METHODS One-hundred and twenty-eight patients w...

The management of seizures and epilepsy begins with forming a differential diagnosis, making the diagnosis, and then classifying seizure type and epileptic syndrome. Classification guides treatment, including ancillary testing, management, prognosis, and if needed, selection of the appropriate antiepileptic drug (AED). Many AEDs are available, and certain seizure types or epilepsy syndromes res...

Benign familial neonatal convulsions are a rare genetic seizure disorder inherited as an autosomal dominant trait. They consist of brief episodes of seizures, recurring during the first few days or weeks of life in otherwise normal babies; their prognosis is good. We report a family in which at least 12 members in three generations presented with this condition; they all had an excellent outcome.

drug abuse in pregnancy is not uncommon, and the use of illicit opioids during pregnancy is associated with an increased risk of adverse outcomes. the aim of the study was to assess neonatal outcome of pregnancy with maternal addiction. materials and methods:   in this cohort study we assessed 100 pregnant women 15 -49 years old. to identify drug exposure was used self- questionnaire (self-repo...

Hundreds of distinct epilepsy-causing genes have been identified.1 The vitamin B6-dependent epilepsies are a heterogeneous group genetic disorders due to incomplete formation, transport, or inactivation pyridoxal 5′-phosphate (PLP).2 ALDH7A1 , PNPO ALPL ALDH4A1 and more recently PLPBP implicated.3 Characteristic presentation includes neonatal onset encephalopathy seizures refractory first-line ...

A survey of the prescription of the novel anticonvulsants lamotrigine, vigabatrin, gabapentin and topiramate was carried out in an outpatient setting to investigate the outcome of prescription and factors affecting response. One hundred and fifty randomly selected patient notes were analysed retrospectively. Drug continuation and seizure freedom were used as measures of response. Twenty-nine pe...

Seizures are defined clinically as a paroxysmal alteration in neurologic function, i.e., motor, behaviour and/or autonomic function. Seizures are the most important signal of neurological disease in the neonatal period. They occur in 1-5% of the new-borns. The incidence is higher during this period than in any other period in life. It is important to treat seizures because of the potential adve...