Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …

An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …

Importance Understanding the causes of infant mortality shapes public health, surveillance,
and research investments. However, the association of single-locus (mendelian) genetic …

Levetiracetam (LEV) is an antiseizure medication (ASM) whose mechanism of action
involves the modulation of neurotransmitters release through binding to the synaptic vesicle …

This article provides a comprehensive narrative review of the history of antiepileptic drugs
(AEDs) and their development over time. Firstly, it explores the significant role of serendipity …

Aim To describe the experiences and unmet medical care needs of a group of parents of
children with developmental and epileptic encephalopathies (DEEs) caused by the SCN1A …

Die genetische Diagnostik bei an Epilepsie erkrankten Personen ist inzwischen weit
verbreitet und unstrittig sinnhaft geworden. Die Kenntnis einer genetischen Ätiologie kann …

Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies
(DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent …

SCN8A‐developmental and epileptic encephalopathy is caused by pathogenic variants in
the SCN8A gene encoding the Nav1. 6 sodium channel, and is characterized by intractable …

MOGHE is defined as mild malformation of cortical development with oligodendroglial
hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed …