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 ...
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, ...
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. ...
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 ...
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 ...
... 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 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 ...
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 ...
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
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 ...
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 ...
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 ...
... Open -Clear- Maintain airway
O2 via NRB
Assist ventilations if needed
Roll patient onto side protecting head
Assess blood glucose
Physical Exam and History
... 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.
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 ...
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
... 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 ...
... 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 ...
Epilepsy-intellectual disability in females
Epilepsy-intellectual disability in females also known as epileptic encephalopathy, early infantile, 9 (EIEE9), and previously called epilepsy-intellectual disability in females, Juberg-Hellman syndrome and epilepsy limited to females with intellectual disability (EFID), has been identified through the incidence of female seizure sufferers in a family over several generations. The first family was reported in 1971 in the Journal of Pediatrics. The striking pattern of onset at a young age, seizure patterns, test and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis. Genetic markers have not yet been developed to an extent that they can be used for diagnosis in individual cases or small families.A study conducted at the Epilepsy Research Centre at the University of Melbourne's Department of Medicine estimated in 2007 that two thirds of EFMR patients have borderline intellectual functioning or intellectual disability. There appears to be a connection to depression, autism, obsessive and aggressive behaviors and other psychiatric disorders.