Seizures are very frequent in neonatal period. A seizure is an abrupt alteration in neurological function of the newborn and it can be due to many different causes. There are new pathogenetic hypothesis that try to clarify the mechanism of neonatal sizures. Leaving aside new four classical types of neonatal seizures (subtle, clonic, tonic, myoclonic), new clinical forms have been recently ident...

CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain isoform is a 9.7kb transcript comprised of 18 exons with a large 6.6kb 3'-untranslated region (UTR). Mammalian models of CDKL5 disorder are currently limited to mouse, and little is known about Cdkl5 in other organisms used to mode...

We investigated the relationship between the scalp distribution of fast (40-150 Hz) oscillations (FOs) and epileptogenic lesions in West syndrome (WS) and related disorders. Subjects were 9 pediatric patients with surgically confirmed structural epileptogenic pathology (age at initial electroencephalogram [EEG] recording: mean 7.1 months, range 1-22 months). The diagnosis was WS in 7 patients, ...

The phenotypic spectrum of STXBP1-related encephalopathy ranges from infantile epileptic to intellectual disability with nonsyndromic or absent epilepsy. Although being frequently reported, the tremor associated STXBP1 has not been fully characterized date. aim our study was describe it. We recruited patients due variants, regardless their phenotype, who had at examination and underwent neuroph...

Patients with early infantile epileptic encephalopathy (EIEE) are at increased risk for sudden unexpected death in epilepsy (SUDEP). De novo mutations of the sodium channel gene SCN8A, encoding the sodium channel Nav1.6, result in EIEE13 (OMIM 614558), which has a 10% risk of SUDEP. Here, we investigated the cardiac phenotype of a mouse model expressing the gain of function EIEE13 patient mutat...

Structured online surveys were used to explore the experiences of the parents of children with refractory epilepsy using medicinal cannabis in Mexico during September 2016. The surveys, which were completed in full, were reviewed, and 53 cases of children aged between 9 months and 18 years were identified. Of these, 43 cases (82%) were from Mexico and 10 (18%) were from Latin American countries...

BACKGROUND Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigate such impacts in families with a child with the CDKL5 disorder, a newly recognised genetic disorder causing severe neurodevelopmental impairments and refractory epilepsy. MET...

Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequen...

The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenoty...

Six mutations in the salt-inducible kinase 1 (SIK1)-coding gene have been identified patients with early infantile epileptic encephalopathy (EIEE-30) accompanied by autistic symptoms. Two of are non-sense that truncate C-terminal region SIK1. It has shown C-terminal-truncated form SIK1 protein affects subcellular distribution protein, tempting to speculate relevance pathophysiology disorders. W...