CITTERIO A.

A 62-year-old woman developed dysphasia, signs of intracranial hypertension and seizures. An MRI scan evidenced extra-axial contrast enhancement in the absence of mass lesions. CSF analysis was negative for malignant cytology and viral or bacterial microbiology. In the absence of other evidence, considering the acute clinical onset and MRI...

Focal cortical dysplasia are a frequent histological finding in epilepsy surgery series. Among the different types of focal cortical dysplasia, distinctive anatomical, electrical and clinical details have been identified for Taylor's focal cortical dysplasia, and in a recent article we reported a better post-surgical outcome in Taylor's focal...

Cerebral cavernous malformations (CCMs) are a diffuse cerebrovascular disease affecting approximately 0.5% of the population. A CCM is characterized by abnormally enlarged and leaky capillaries arranged in mulberry-like structures with no clear flow pattern. The lesion might predispose to seizures, focal neurological deficits or fatal...

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and occur as a sporadic or an autosomal dominant condition. Three genes have been identified as causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and...

Sleep-related hyperkinetic seizures are a common feature of nocturnal frontal lobe epilepsy. Although sleep-related seizures with a temporal lobe origin have been reported, they commonly lack hyperkinetic activity. The authors describe three patients with sleep-related seizures characterized by frenetic, agitated, hyperactive movements...

Objective: To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations. Methods: Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10),...