Gianluca Casara

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OBJECTIVES To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of KCNQ2 epileptic encephalopathy. METHODS Eighty-four patients with unexplained NEE were screened for KCNQ2 mutations using classic Sanger sequencing. Clinical data of 6 additional patients with KCNQ2(More)
OBJECTIVE To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a(More)
The authors describe 7 new cases of Angelman syndrome (AS: 3 males and 4 females) diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect deletion of the long arm of(More)
Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of swirling hypopigmentation. Multiple extracutaneous abnormalities involving the central nervous system, the eyes, and musculoskeletal structures occur in over two-thirds of the cases. This report describes two patients with typical unilateral cutaneous lesions(More)
The KCNT1 gene encodes for subunits contributing to the Na(+)-activated K(+) current (KNa), expressed in many cell types. Mutations in KCNT1 have been found in patients affected with a wide spectrum of early-onset epilepsies, including Malignant Migrating Partial Seizures in Infancy (MMPSI), a severe early-onset epileptic encephalopathy characterized by(More)
Carbamazepine (CBZ) and carbamazepine-10,11-epoxide (CBZ-epox) steady-state serum concentrations were measured in 82 children who had generalized tonic-clonic, or partial seizures. There was no correlation between a given dose and serum concentrations, whether other anticonvulsant drugs were used or not. Epileptic children receiving polytherapy (CBZ(More)
A relationship between ghrelin and epilepsy has been already shown in humans, although the results are controversial. Ghrelin levels are reduced in obesity. Epileptic patients progressively develop a therapy-linked weight gain; however, the mechanisms for this have not been fully explained. The aim of our study is to evaluate if ghrelin secretion is(More)
B.I.H. or Pseudotumor is rare in children particularly under the first year of age. In addition, the syndrome at this age presents some peculiarities as compared with the adult form. This report describes the authors' experience with patients aged 4 to 12 months. Bulging fontanelle was the presenting symptom in all. Papilledema, strabismus, were present(More)
Subclinical involvement of the nervous system in uremic adults has been detected by modern neurophysiological techniques. Chronic anemia is one of the possible factors responsible for neural dysfunction in uremia. We evaluated neurophysiological (brainstem auditory and somatosensory evoked potential) abnormalities and their possible modification following(More)