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Severe myoclonic epilepsy of infancy

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.

... including epilepsy, autism, and ...named severe myoclonic epilepsy of infancy (SMEI), as well as epileptic encephalopathy, partial epilepsy, generalized epilepsy, and ...

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"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

... “ severe myoclonic epilepsy of infancy ” (SMEI) represent the most severe ...Drug-resistant myoclonic, complex partial, and atypical absence seizures can appear after the 12 ...

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Benign and severe early-life seizures: a round in the first year of life

Benign and severe early-life seizures: a round in the first year of life

... Severe myoclonic epilepsy in infancy- Dravet syndrome Since the initial description in 1978 [86] and subsequent reports of Dravet, the clinical features of this disorder are represented by ...

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Child Neurology: Dravet syndromeWhen to suspect the diagnosis

Child Neurology: Dravet syndromeWhen to suspect the diagnosis

... as severe myoclonic epilepsy in infancy (SMEI), is an epileptic encephalopathy that presents with prolonged seizures in the first year of ...

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Clinical and molecular characterization ofKCNT1 related severe early onset epilepsy

Clinical and molecular characterization ofKCNT1 related severe early onset epilepsy

... patients. Four patients had a choreiform movement disorder (onset 14–24 months); 1 patient developed generalized dys- tonia at 18 months. Onset of hyperkinesia was not related to medication (including vigabatrin) nor ...

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Drug Refractory Juvenile Myoclonic Epilepsy: Neuropsychological profile and psychiatric symptoms

Drug Refractory Juvenile Myoclonic Epilepsy: Neuropsychological profile and psychiatric symptoms

... Finally, there were several limitation related to the sample. Firstly the current study did not have a control group. A healthy control group was not used as the aim was to profile drug-refractory JME. However an ...

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Child Neurology: Epilepsy of infancy with migrating focal seizures

Child Neurology: Epilepsy of infancy with migrating focal seizures

... Prognosis. The long-term outcome is dismal in most cases. Most children have severe psychomotor retar- dation and acquired microcephaly along with con- tinuing seizures. A few children whose seizures are ...

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Human Brain signal Analysis: Juvenile Myoclonic Epilepsy Diagnosis by Electroencephalograph

Human Brain signal Analysis: Juvenile Myoclonic Epilepsy Diagnosis by Electroencephalograph

... Juvenile Myoclonic Epilepsy recognition and its cognitive effect were investigated through Welch Periodogram analysis of EEG ...Juvenile Myoclonic Epilepsy detected in primarily stage where ...

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The genetic determinants of lamotrigine dosing in epilepsy

The genetic determinants of lamotrigine dosing in epilepsy

... Overall, five demographic variables and 173 sites of genetic variation across five candidate genes have been analysed to investigate associations with LTG maintenance dose. None of the univariate analyses remained ...

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Influence of anxiety on wrist tapping parameters and individual perception of one minute in healthy adults and in patients with juvenile myoclonic epilepsy

Influence of anxiety on wrist tapping parameters and individual perception of one minute in healthy adults and in patients with juvenile myoclonic epilepsy

... Emergence of a pathological dominant, which is an extremely amplified locus of excitation in CNS [12], may be seen during formation of an epileptic system, as in JME. We hypothesized that this event will affect wrist ...

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West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

... arrhythmic myoclonic jerks of the upper limbs, mainly on awakening, synchronous with the generalized discharges of 4 Hz spike-wave (Figure ...triggered myoclonic jerks associated with generalized discharges ...

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Pattern sensitivity: a missed part of the diagnosis

Pattern sensitivity: a missed part of the diagnosis

... Results: Two hundred twenty-eight patients were studied; twelve patients (5.26%) had pattern sensitivity and their ages ranged from 5 to 12 years. Eight of these patients (66.7%) were referred for seizure disorders, two ...

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Clinical and molecular characterisation of KCNT1 related severe early onset epilepsy

Clinical and molecular characterisation of KCNT1 related severe early onset epilepsy

... American Epilepsy Society, and a Junior Investigator travel scholarship from the University of South ...for Epilepsy Currents, and is on the editorial board for Annals of ...in Epilepsy, and the ...

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Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy

Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy

... 5 large prospective study of 257 JME patients reported remission in 58% of the 186 patients considered to have classical JME, but a much lower rate of remission of 7% in the subtype which had evolved from an earlier CAE ...

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SEVERE IDIOPATHIC HYPERCALCEMIA OF INFANCY

SEVERE IDIOPATHIC HYPERCALCEMIA OF INFANCY

... SEVERE IDIOPATHIC HYPERCALCEMIA OF INFANCY.. By George L.[r] ...

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Developmental Outcome After Epilepsy Surgery in Infancy

Developmental Outcome After Epilepsy Surgery in Infancy

... We present the first study, to our knowledge, with for- mal preoperative and postoperative neurodevelopmen- tal testing limited to infants ⬍ 36 months old at the time of epilepsy surgery. The median DQ improved ...

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Juvenile Myoclonic Epilepsy (JME): Neuropsychological Profile and Related Factors with Cognitive Dysfunction.

Juvenile Myoclonic Epilepsy (JME): Neuropsychological Profile and Related Factors with Cognitive Dysfunction.

... the epilepsy clinic of Sina Hospital, and 32 healthy controls in Tehran, Iran were enrolled in the ...Against Epilepsy (ILAE) classification ...of myoclonic jerks with or without generalized tonic- ...

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SHOULD STEROIDS BE USED IN TREATING BRONCHIOLITIS?

SHOULD STEROIDS BE USED IN TREATING BRONCHIOLITIS?

... tis or asthma? Pediat. : Bronchio- litis in infancy. : Severe obstructive bronchiolitis in infancy: Treatment with hvdrocortisone. : Steroids in the treatment of oh-. structive bronchiol[r] ...

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Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings

Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings

... In JME, previous work has shown variable patterns of in- creased 3 or reduced cortical thickness 49 ; disparities with our study may relate to differences in age, disease duration, and clinical phenotypes. Notably, ...

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Clinical Reasoning: A 62-year-old woman with deafness, unilateral visual loss, and episodes of numbness

Clinical Reasoning: A 62-year-old woman with deafness, unilateral visual loss, and episodes of numbness

... (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), and chronic progressive external ophthalmoplegia often include sensorineural hearing loss; on the other hand, Leber hereditary optic neuropathy, ...

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