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

Brain Res. 2008 Oct 21, .  et al. 0

Dura E

Abada YS, .  et al. 0

Borloz E

Gecz J, .  et al. 0

Houdayer C