The cyclin-dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder (CDD).
In this article, we will discuss some innovative approaches, such as P-glycoprotein (P-gp) inhibitors, gene therapy, stem cell therapy, traditional and novel antiepileptic devices, precision medicine, as well as therapeutic advances in epileptic encephalopathy in children; these treatment modalities open up new horizons for the treatment of patients with drug-resistant epilepsy.
Heterozygous inherited mutations in their principle subunits K<sub>v</sub> 7.2/KCNQ2 and K<sub>v</sub> 7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous K<sub>v</sub> 7.2 mutations are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay and autism.
Heterozygous inherited mutations in their principle subunits K<sub>v</sub> 7.2/KCNQ2 and K<sub>v</sub> 7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous K<sub>v</sub> 7.2 mutations are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay and autism.
Prax330 reduces persistent and resurgent sodium channel currents and neuronal hyperexcitability of subiculum neurons in a mouse model of SCN8Aepileptic encephalopathy.
Stiripentol, known to increase GABA<sub>A</sub> receptor activity as well as the metabolites of GABA<sub>A</sub> receptor agonists, is often used in the treatment of an epileptic encephalopathy, Dravet syndrome (DS), which is caused by mutations mainly in SCN1A and in other genes such as GABRG2.
Stiripentol, known to increase GABA<sub>A</sub> receptor activity as well as the metabolites of GABA<sub>A</sub> receptor agonists, is often used in the treatment of an epileptic encephalopathy, Dravet syndrome (DS), which is caused by mutations mainly in SCN1A and in other genes such as GABRG2.
SCN1A mutations are associated with a spectrum of seizure-related disorders, ranging from a relatively mild form of febrile seizures to a more severe epileptic encephalopathy known as Dravet syndrome.
We provide the first detailed description of patients harboring a splice-site variant in the WWOX gene and propose that the clinical synopsis of WWOX related epileptic encephalopathy should be broadened to include facial dysmorphism.
Our study on the functional consequences of SCN2A variants causing the distinct phenotypes of EE, BFNIE and ID contributes to the elucidation of mechanisms underlying the broad phenotypic variability reported for SCN2A variants.
Recent whole exome sequencing studies identified <i>de novo</i> hotspot variants in <i>CYFIP2</i> from patients with early-onset epileptic encephalopathy and microcephaly, suggesting that CYFIP2 may have some functions in embryonic brain development.