regulation of the complement way, . et al. 0 and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy but abnormalities in electroencephalographic studies were eventually present in all cases. Different type - issue: - volume: - pages: .
pharmacological interventions can be envisaged to try to counteract the deficits observed. Here, . et al. 0 we review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available - issue: - volume: - pages: .
J Med Genet. 2010 Jan, . et al. 0 Mencarelli MA 10.1136/jmg.2009.067884 - issue: - volume: - pages: .
H u h L, . et al. 0 L e s c a G H a g i n o y a K P i e t r a f u s a N - issue: M a t h i e u M L - volume: M i n a s s i a n B A - pages: L a g a e L .
affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography, . et al. 0 lasting a few minutes to several hours suggest that mutations in TBCD24 cause a pathological continuum - issue: - volume: - pages: .
which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, . et al. 0 the duplication arose de novo. CONCLUSIONS: Interstitial 16p13.3 duplications have a recognizable phenotype genitalia - issue: - volume: - pages: .
Gene Expr Patterns. 2009 Sep, . et al. 0 Cantagrel V 10.1016/j.gep.2009.06.001 - issue: - volume: - pages: .
Elizabeth, . et al. 0 Linda; Lesca Ilaria; Haginoya Antonio; Pietrafusa - issue: Mathieu; Mathieu - volume: Marie L.; Minassian - pages: Julien; Lagae.
Eur J Med Genet. 2009 Jul-Aug, . et al. 0 Haddad MR 10.1016/j.ejmg.2009.04.002 - issue: - volume: - pages: .
D a u b a A, . et al. 0 L a r r a t B R o u x J C . " P h a r m a c e u t i c s . 2 0 2 1 A u g 1 2 ; 1 3 ( 8 ) : 1 2 4 5 . d o i : 1 0 . 3 3 9 0 / p h a r m a c e u t i c s 1 3 0 8 1 2 4 5 . " F e l i x M S ... - issue: - volume: - pages: .
Marie-Reine, . et al. 0 Laurent";Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex.;Molecular neurobiology;;1559-1182 0893-7648;10.1007/s12035-014-8919-y;;DNA double-strand breaks (DSBs) frequently occur in rapidly dividing cells such as proliferating progenitors during central nervous system development. If they cannot be repaired - issue: - volume: - pages: .
and neuroimaging data of 17 patients with FHF1-DEE. Sixteen patients had recurrent heterozygous FHF1 missense variants: 14 had the recurrent p.Arg114His variant and two had a novel likely pathogenic variant p.Gly112Ser. The p.Arg114His variant is associated with an earlier onset and more severe phenotype. One patient carried a chromosomal microduplication involving FHF1. Twelve patients carried a de novo variant, . et al. 0 five (29.5%) inherited from parents with gonadic or somatic mosaicism. Seizure onset was between 1 day and 41 months; in 76.5% it was within 30 days. Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy - issue: - volume: - pages: .
and involve several genes implicated in various steps of brain development. Haploinsufficiency of the mouse orthologue of YWHAE causes a defect of neuronal migration. However, . et al. 0 the human counterpart of this phenotype was not known. The case described here represents the smallest reported deletion involving the YWHAE gene and could represent the human counterpart of the abnormal cortical organisation phenotype presented by the Ywhae heterozygous knockout mouse.;2 - issue: - volume: - pages: .