Rare ACTG1 variants in fetal microlissencephaly

Genetics and mechanisms leading to human cortical malformations

“…Cases are often atypical, sometimes exhibiting de novo sporadic mutations, or alternatively, homozygous mutations were identified in consanguineous families. Some examples are EML1, CRADD, ACTG1 and KATNB1 (see Table 6) [267][268][269][270][271]. Related genes, such as α-E-catenin, Ccdc85C, Rapgef2/Rapgef6, Afadin and RhoA induce similar, severe phenotypes (e.g.…”

Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome

“…In this review, all patients with epilepsy had MRI abnormalities, but not every patient with MRI abnormalities had epilepsy. In some patients with BWCS, the epilepsy was drug-resistant [6], [7], [8]. In one case a patient had BWCS and Lennox–Gastaut syndrome with refractory atonic seizures, atypical absence seizures, and tonic seizures.…”

Baraitser–Winter cerebrofrontofacial syndrome

“…It has now been demonstrated that they are also caused by ACTB and ACTG1 mutations, and Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) has been put forward as a unifying name (5). More recently, foetal cases with microlissencephaly have been described, further extending the phenotypic spectrum (6). Here we report the first instance of parent-child transmission, review the phenotypic and molecular characteristics of the approximately 60 cases published to date, illustrating key points with two additional patients.…”

“…Pachygyria, frontal or perisylvian, is most common (Fig. ) (personal observation). Lissencephaly with diffuse agyria has also been reported .…”