Headache and epilepsy:two cronic disorders with clinical comorbidity

2004

Spasmi infantili e Malattia di Krabbe: descrizione di un caso clinico

2004

Early behavioural phenotype in a child with inv dup (15)

2005

Hyperekplexia caused by dominant-negative suppression of glyra1 function.

2007

Hyperekplexia (HE; startle disease; OMIM#149400) is a rare inheritable neurologic disorder characterized by an exaggerated response to sudden stimuli, muscular rigidity, and hyperreflexia, leading to chronic injuries due to unprotected falls. All symptoms are present at birth but gradually decline during the first year of life, although an exaggerated startle response remains during adulthood.1 Dysfunctional inhibitory neurotransmission by glycine (Gly) plays a central role in HE pathogenesis. All patients with HE carry mutations in genes encoding either for α1 (GLYRA1) or β (GLYRB) Gly receptor subunits, presynaptic Gly transporters (SLC6A5), or proteins involved in Gly receptor (GLYR) clu…

Ritardo di linguaggio secondario a regressione precoce di origine epilettica.

2006

Crisi gelastiche: analisi clinica e video-EEG di un caso pediatrico con focolaio frontale

2006

Superior sagittal sinus thrombosis and headache: case report

2004

Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy

2011

Abstract Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE). We report a patient who at 11 months of age showed isolated myoclonic jerks occurring several times a day. The ictal video-EEG and polygraphic recording revealed generalized discharge of spike-wave (SW) lasting 1–2s associated with isolated bilateral synchronous jerk involving mainly the upper limbs controlled by valproic acid (VPA). At 6 years and 8 months the child developed a new elec…