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Mostrando ítems 91-100 de 165
Alcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients
(Springer, 2000-12-01)
We present the clinical profile of a group of patients with myoclonus and dystonia sensitive to alcohol and address these cases in the context of essential myoclonus. Six patients from 4 families were selected: 4 men and ...
Epilepsias mioclônicas progressivas: descrição clínica, eletroencefalográfica e da frequência da mutação A8344Gem pacientes do Ambulatório de Neurogenética do Hospital das Clínicas- UFMG
(Universidade Federal de Minas GeraisUFMG, 2012-10-17)
The progressive myoclonic epilepsies (PME) are a rare group of epilepsies of debilitating evolution and bad prognosis. The challenge concerning PME consists of the difficulty in establishing the etiology and the absence ...
A novel exaggerated "Spino-bulbo-spinal like" reflex of lower brainstem origin
(2019)
Background: Many different oligosynaptic reflexes are known to
originate in the lower brainstem which share phenomenological and
neurophysiological similarities.
Objective: To evaluate and discuss the differences and ...
Pyridoxine-dependent epilepsy initially responsive to phenobarbital
(Academia Brasileira de Neurologia - ABNEURO, 2007-12-01)
Pyridoxine-dependent epilepsy is a rare autossomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a ...
Adult-onset opsoclonus-myoclonus-ataxia syndrome as a manifestation of brazilian lyme disease-like syndrome: a case report and review of literature
(Hospital Universitário da USPSão Paulo, 2014)
Described in 1962, the opsoclonus-myoclonus-ataxia syndrome (OMAS) is
a rare, neurologically debilitating disorder with distinct characteristics that
may begin in childhood or adult life. Although many cases remain ...
Gaucher disease: a case studyEnfermedad de Gaucher: estudio de caso
(Facultad de Medicina, 2017)
A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS plus ) mutation
(Elsevier B.V., 2009-07-01)
Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI). To ...
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
(Wiley Blackwell Publishing, Inc, 2018-12-07)
Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem. ...
Myoclonus and angiokeratomas in adult galactosialidosis
(Wiley-liss, Div John Wiley & Sons Inc, 2011-03)
Galactosialidosis is an autosomal recessive lysosomal storage disorder characterized by a combined deficiency of b- galactosidase and a-neuraminidase, due to a defect of another lysosomal protein, cathepsin A. The latter, ...