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

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

Neurology. 2009 Mar 3, .  et al. 0

Cardoso C

Broussin B, .  et al. 0

Carles D

Boys A, .  et al. 0

Parrini E

, .  et al. 0

and imaging phenotype of patients with FHF1-DEE, .  et al. 0

which is characterized by early onset epilepsy with tonic seizures

, .  et al. 0

Neurosci Lett. 2008 Dec 5, .  et al. 0

Roux JC

Borges-Correia A, .  et al. 0

Saudou F

Khrestchatisky M, .  et al. 0

Fontès M

François, .  et al. 0

Judith; Duffourd

Pierre, .  et al. 0

Emmanuelle; Ben Zeev

Spain and Latvia. Clinical data have been compared with the two previously reported patients with mutations in FOXG1. In all cases hypotonia, .  et al. 0

irresponsiveness and irritability were present in the neonatal period. At birth

Hum Mutat. 2008 Nov, .  et al. 0

Giurgea I

Villard L, .  et al. 0

Peyronnet-Roux J

Villard L, .  et al. 0

Orellana C

we hypothesized that the observed phenotype was due to mutations in the same gene, .  et al. 0

and we performed exome sequencing in three affected individuals. Analysis of rare variants in genes consistent with an autosomal-recessive mode of inheritance led to identification of mutations in SLC13A5

and perisylvian polymicrogyria. The duplicated segment is intrachromosomal, .  et al. 0

duplicated in mirror and contains two genes: enolase 1 (ENO1) and RERE

, .  et al. 0