The genetics of dystonia: new twists in an old tale
... responsible for familial dystonia remain to be discovered, such that negative genetic testing for all currently known dystonia genes does not imply that the disorder is not genetic. Late-onset dystonia, which represents by far the greatest number of cases, also appears to have a strong genetic basis ...
... responsible for familial dystonia remain to be discovered, such that negative genetic testing for all currently known dystonia genes does not imply that the disorder is not genetic. Late-onset dystonia, which represents by far the greatest number of cases, also appears to have a strong genetic basis ...
Focal cortical dysplasia – review
... seizures [5,16]. In patients with FCD type II, multilobar lesions are found, involving hemisphere, often with extratemporal location and mainly in the frontal lobe. Therefore seizures with early onset in neonatal period or childhood are more likely FCD type II with multilobar or hemispheric lesion, ...
... seizures [5,16]. In patients with FCD type II, multilobar lesions are found, involving hemisphere, often with extratemporal location and mainly in the frontal lobe. Therefore seizures with early onset in neonatal period or childhood are more likely FCD type II with multilobar or hemispheric lesion, ...
Desensitization to Oxcarbazepine
... were seizure-free after 3 years of follow-up. At the last followup, nine patients (47.4%) were seizure-free, and two remained seizure-free without any AEDs for 13 and 6 months. The number of concomitant AEDs administered to patients with epilepsy decreased from 5.85±3.22 before desensitization to 2. ...
... were seizure-free after 3 years of follow-up. At the last followup, nine patients (47.4%) were seizure-free, and two remained seizure-free without any AEDs for 13 and 6 months. The number of concomitant AEDs administered to patients with epilepsy decreased from 5.85±3.22 before desensitization to 2. ...
Medium-chain Triglyceride Ketogenic Diet, An Effective Treatment
... efficacy of the medium-chain triglyceride KD (MCTKD) is as excellent as the classic KD (CKD), which has been documented in several subsequent retrospective, prospective, and randomized studies. MCT oil is more ketogenic than long-chain triglycerides. Therefore, the MCTKD allows more carbohydrate and ...
... efficacy of the medium-chain triglyceride KD (MCTKD) is as excellent as the classic KD (CKD), which has been documented in several subsequent retrospective, prospective, and randomized studies. MCT oil is more ketogenic than long-chain triglycerides. Therefore, the MCTKD allows more carbohydrate and ...
EEG changes associated with autistic spectrum disorders
... EEG is a widely used technique to investigate brain functions in healthy individuals and in those with medical and psychiatric problems. EEG can be used to examine brain activity either during rest, or during evoked brain responses using specific tasks known to elicit these evoked responses as well ...
... EEG is a widely used technique to investigate brain functions in healthy individuals and in those with medical and psychiatric problems. EEG can be used to examine brain activity either during rest, or during evoked brain responses using specific tasks known to elicit these evoked responses as well ...
PDF
... alpha-synuclein pathology in a few cases (Behrens et al., 2007; Leverenz et al., 2007). Age at onset appears to be variable with the youngest GRN mutation case thus far reported being 35 (Leverenz et al., 2007) and the oldest case being 83 years old at onset (Gass et al., 2006) with wide variability ...
... alpha-synuclein pathology in a few cases (Behrens et al., 2007; Leverenz et al., 2007). Age at onset appears to be variable with the youngest GRN mutation case thus far reported being 35 (Leverenz et al., 2007) and the oldest case being 83 years old at onset (Gass et al., 2006) with wide variability ...
Drop attacks
... Drop attacks can be confused with the falls caused by atonic seizures (Obeid and Mikati 2007), cataplexy and other stimulus-induced drop episodes, movement disorders (eg, asterixis, chorea, myoclonus) (Massey et al 1988), and syncope. In children and young adults, it is important to distinguish spon ...
... Drop attacks can be confused with the falls caused by atonic seizures (Obeid and Mikati 2007), cataplexy and other stimulus-induced drop episodes, movement disorders (eg, asterixis, chorea, myoclonus) (Massey et al 1988), and syncope. In children and young adults, it is important to distinguish spon ...
May 2008 - Physicians
... and burst suppression coma with pentothal, midazolam, propofol or ketamine. The mean duration of anesthesia was 28 days. Two died, four had persistent seizure disorder, one experienced mild developmental delay and one made a full clinical recovery, though MRI demonstrated cerebral atrophy. General R ...
... and burst suppression coma with pentothal, midazolam, propofol or ketamine. The mean duration of anesthesia was 28 days. Two died, four had persistent seizure disorder, one experienced mild developmental delay and one made a full clinical recovery, though MRI demonstrated cerebral atrophy. General R ...
Genotype–phenotype correlation of paroxysmal nonkinesigenic
... the PNKD gene is a major advance toward better diagnosis, better understanding of disease pathophysiology, and development of more effective treatment options for PNKD. In this article, we performed phenotype– genotype correlations in a large group of paroxysmal dyskinesia families. METHODS We analy ...
... the PNKD gene is a major advance toward better diagnosis, better understanding of disease pathophysiology, and development of more effective treatment options for PNKD. In this article, we performed phenotype– genotype correlations in a large group of paroxysmal dyskinesia families. METHODS We analy ...
Last Review Status/Date
... CGG-repeat expansion full mutations account for more than 99% of cases of FXS. (9) Therefore, tests that effectively detect and measure the CGG repeat region of the FMR1 gene are more than 99% sensitive. Positive results are 100% specific. There are no known forms of fragile X mental retardation pro ...
... CGG-repeat expansion full mutations account for more than 99% of cases of FXS. (9) Therefore, tests that effectively detect and measure the CGG repeat region of the FMR1 gene are more than 99% sensitive. Positive results are 100% specific. There are no known forms of fragile X mental retardation pro ...
MDA INFORMATION FACTSHEET – Mitochondrial
... abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (e.g. dementia). If there is a history of developmental delays, learning disabilit ...
... abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (e.g. dementia). If there is a history of developmental delays, learning disabilit ...
More surprises in sarcomeric protein diseases
... mutations in nebulin are the commonest cause of recessive nemaline myopathy (Pelin et al., 1999). Nebulin nemaline myopathy, like other congenital myopathies, affects proximal muscles more than distal muscles (Wallgren-Pettersson et al., 2004). The nebulin mutations that cause nemaline myopathy are ...
... mutations in nebulin are the commonest cause of recessive nemaline myopathy (Pelin et al., 1999). Nebulin nemaline myopathy, like other congenital myopathies, affects proximal muscles more than distal muscles (Wallgren-Pettersson et al., 2004). The nebulin mutations that cause nemaline myopathy are ...
Ashcraft v. Univ. of Cincinnati Hosp.
... administered a number of neuropsychological tests as part of his initial psychiatric evaluation of Tracy. ...
... administered a number of neuropsychological tests as part of his initial psychiatric evaluation of Tracy. ...
Neurological Factors in Violent Behavior (The Dyscontrol Syndrome)
... and the role of personality disorders and mental illness is so obvious, that the part played by brain damage and metabolic disorders is often overlooked. This is unfortunate because the most dangerous symptom of organic disease-unpredictable attacks of uncontrollable rage in response to seemingly tr ...
... and the role of personality disorders and mental illness is so obvious, that the part played by brain damage and metabolic disorders is often overlooked. This is unfortunate because the most dangerous symptom of organic disease-unpredictable attacks of uncontrollable rage in response to seemingly tr ...
Seizures
... Open -Clear- Maintain airway O2 via NRB Assist ventilations if needed Roll patient onto side protecting head Reassess ABCDs Assess blood glucose Physical Exam and History ...
... Open -Clear- Maintain airway O2 via NRB Assist ventilations if needed Roll patient onto side protecting head Reassess ABCDs Assess blood glucose Physical Exam and History ...
Slide 1
... Ketosis is induced by starvation for 1-2 days, then perpetuated by ketogenic diet Diet alters metabolism to replace glucose with fats as the body’s main energy source Ketone bodies may have an antiepileptic effect (mechanism not understood) Many observation studies report good results ...
... Ketosis is induced by starvation for 1-2 days, then perpetuated by ketogenic diet Diet alters metabolism to replace glucose with fats as the body’s main energy source Ketone bodies may have an antiepileptic effect (mechanism not understood) Many observation studies report good results ...
Page 1 of 6 Clinical Policy: Clobazam (Onfi)
... -Added criteria for continuity of care and documentation of positive response to therapy for re-auth. -Updated references Important Reminder This clinical policy has been developed by appropriately experienced and licensed health care professionals based on a review and consideration of currently av ...
... -Added criteria for continuity of care and documentation of positive response to therapy for re-auth. -Updated references Important Reminder This clinical policy has been developed by appropriately experienced and licensed health care professionals based on a review and consideration of currently av ...
Group 13: Temporal Lobe Stimulation
... He remembered that during his epileptic fits, or rather immediately preceding them, he had always experienced a moment or two when his whole heart, and mind, and body seemed to wake up with vigor and light; when he became filled with joy and hope, and all his anxieties seemed to be swept away for e ...
... He remembered that during his epileptic fits, or rather immediately preceding them, he had always experienced a moment or two when his whole heart, and mind, and body seemed to wake up with vigor and light; when he became filled with joy and hope, and all his anxieties seemed to be swept away for e ...
Neonatal Neurological and Neuromuscular System
... or boundaries, the subgaleal hematoma may extend from orbital ridges to the nape of the neck There is a large potential space for blood to accumulate, and the possibility of life threatening hemorrhage ...
... or boundaries, the subgaleal hematoma may extend from orbital ridges to the nape of the neck There is a large potential space for blood to accumulate, and the possibility of life threatening hemorrhage ...
Book Reviews
... describes clinical features with photographs, natural history and diagnosis in detail. History of 22q13.3 deletion syndrome along with clinical features, photographs, differential diagnosis and natural history is very well described in the article related to PhelanMc Dermid syndrome. Article on Klee ...
... describes clinical features with photographs, natural history and diagnosis in detail. History of 22q13.3 deletion syndrome along with clinical features, photographs, differential diagnosis and natural history is very well described in the article related to PhelanMc Dermid syndrome. Article on Klee ...
Text S1.
... baseline description, titration period and treatment period duration; (2) patients’ characteristics—age, type of seizures (partial or generalized), number of patients per arm, percentage of male sex, number of concomitant AEDs, median seizure frequency during the baseline period (/28 days); (3) inte ...
... baseline description, titration period and treatment period duration; (2) patients’ characteristics—age, type of seizures (partial or generalized), number of patients per arm, percentage of male sex, number of concomitant AEDs, median seizure frequency during the baseline period (/28 days); (3) inte ...
45 y. o. woman with head injury and seizure
... seizure focus, we ordered a seizure-protocol brain MRI. We also ordered an EEG and a neurology ...
... seizure focus, we ordered a seizure-protocol brain MRI. We also ordered an EEG and a neurology ...
