5 documents found, page 1 of 1
Phenotyping GABA transaminase deficiency: a case description and literature review
Louro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, PGamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor ret...
MÓDULO 6 - 2º Curso de Formação para Internos 2013 - 2014:Desenvolvimento e Neu...
Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Diogo, L; Nogueira, S; Duque, F; Boavida, J; Pereira, C; Robalo, C; Vasconcelos, M; Fineza, I
Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood ...
Lopes, AF; Monteiro, JP; Fonseca, MJ; Robalo, C; Simões, MRSpecific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epileps...
MÓDULO 5 - Desenvolvimento e Neurologia
Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Nogueira, S; Boavida, J; Duque, F; Robalo, C; Vasconcelos, M; Costa, C; Fineza, I; Diogo, L
Different Electroclinical Manifestations of the Epilepsy Associated with Hamart...
Leal, A; Moreira, A; Robalo, C; Ribeiro, CPURPOSE: The epilepsy associated with hypothalamic hamartomas (HHs) has typical clinical, electrophysiologic, and behavioral manifestations refractory to drug therapy and with unfavorable evolution. It is well known that only sessile lesions produce epilepsy, but no correlation has been established between the different types of sessile hamartomas and the diverse manifestations of the epilepsy. We correlate ana...