Presentation
The present findings also highlight the importance of acquired factors that are directly relevant to the epilepsy phenotype and its severity even in monogenic epilepsies. [ncbi.nlm.nih.gov]
Entire Body System
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Asymptomatic
This mutation segregated with the disorder in all 11 affected members, in the 2 obligate carriers, and in 1 asymptomatic sibling, and was not found in 1 spouse and 1 daughter. [ncbi.nlm.nih.gov]
Psychiatrical
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Social Isolation
They report higher levels of anxiety and stress due to social isolation, discrimination, the unpredictability of their seizures and people’s reactions to them as well as fear of injury, death and brain damage from their seizures. [en.wikipedia.org]
Neurologic
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Headache
Basilar artery migraine, usually in children, overlaps with benign occipital epilepsy (visual aura, headache, vomiting), and manifests as prolonged visual blacking, vertigo, diplopia, loss of consciousness, headache, and vomiting. [jnnp.bmj.com]
High-grade tumors more often present with headache or focal deficits, but many are associated with seizures at some time in their course. Head trauma Head trauma is a very frequent cause of damage to the frontal lobes. [emedicine.medscape.com]
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Apathy
The fourth family member needs help with activities of daily living due to incapacitating apathy, although she does not have a psychiatric diagnosis. Such accumulation of psychiatric problems was not seen in the family with the Ser248Phe mutation. [ncbi.nlm.nih.gov]
Workup
[…] frontal lobe epilepsy frequently require invasive EEG monitoring On intracranial EEG, Ictal onset most often appears as a low-voltage, high-frequency discharge (ie, buzz), although rhythmic activity at alpha, theta, or delta frequencies may be seen See Workup [emedicine.medscape.com]
EEG
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Rhythmic Slowing
In another 47.4% of patients the EEG showed ictal rhythmic slow activity over anterior areas. Only 18.4% of the patients had already received a correct diagnosis of epilepsy. [ncbi.nlm.nih.gov]
Treatment
One patient who recently had begun treatment with transdermal nicotine experienced improvement. We conclude that tobacco appears to be an environmental factor that influences seizure susceptibility in ADNFLE. [ncbi.nlm.nih.gov]
About 30% of cases are resistant to treatment. If your seizures are not controlled, seek out the help of an epilepsy specialist or visit an epilepsy center to explore all treatment options. [epilepsy.com]
The investigators assessed patient response to their current treatment who were offered alternatives, including lacosamide, for treatment-resistant or drug-related adverse events. [empr.com]
Prognosis
Prognosis Prognosis of benign rolandic epilepsy is very favorable in the majority of cases. Less than 2% will develop epilepsy later. Between 10% and 20% have a single seizure and the same percentage of patients suffer from frequent seizures. [doctorstrizhak.com]
Prognosis Seizures are lifelong, with spontaneous remissions and relapses. Attacks become milder after ages 50 to 60. Severity varies from mild (seizures appearing only in brief periods) to severe (frequent and intractable seizures). [epilepsy.com]
Coma may recur but individual attacks have an excellent prognosis. [jnnp.bmj.com]
Genetic testing and counseling may be important for understanding the patient's prognosis, as well as for family planning purposes. [pcs.hmc.washington.edu]
An important feature in prognosis is the early recognition of frontal lobe seizures as an epileptic syndrome rather than as a parasomnia or a psychiatric condition. Patient Education Patient education is important for all patients with epilepsy. [emedicine.medscape.com]
Etiology
The etiologies of seizures in chronic smokers are numerous, and include noncompliance with taking AEDs, and multisystem disorders such as COPD. [pediatricneurologybriefs.com]
It was hypothesized, therefore, that the condition was heterogeneous and included paroxysmal disorders with different underlying etiologies. [medlink.com]
Etiological conclusions of various studies has often been conflicting, suggesting either an epileptic or a non-epileptic origin of these nocturnal events 4. [ispub.com]
Here we describe a novel CHRNA4 mutation in ADNFLE, observed in a Norwegian family ( Fig. 1 ), which supports the etiological role of CHRNA4 in this epilepsy. [doi.org]
Etiology Developmental lesions With improvements in neuroimagine, cortical dysplasias are increasingly being identified as epileptogenic lesions. This is particularly true for patiens who were initially assumed to be nonlesional. [emedicine.medscape.com]
Epidemiology
Wegener, HC, and Tauxe, RV Epidemiology of Campylobacter jejuni infections in the United States and other industrialized nations. [books.google.es]
The epidemiology of panic attacks and panic disorders. Results of three community surveys. Am J Epidemiol. 1985 ; 122 : 970 –81. 20. Dantendorfer K, Frey R, Maierhofer D, et al. [cambridge.org]
Sex predilection No significant sex-based frequency difference has been reported for frontal lobe epilepsy in epidemiologic studies. [emedicine.medscape.com]
Cirignotta F, Zucconi M, Mondini S, Lenzi PL, Lugaresi E (1983) Enuresis, sleepwalking and nightmares: an epidemiological survey in the Republic of San Marino. [link.springer.com]
Enuresis, sleepwalking, and nightmares: an epidemiological survey in the Republic of San Marino. In: Guilleminault C, Lugaresi E, editors. Sleep/wake disorders: natural history, epidemiology, and long-term evolution. [academic.oup.com]
Pathophysiology
Pathophysiology [ edit ] CHRNA4 [ edit ] The first mutation associated with ADNFLE is a serine to phenylalanine transition at position 248 (S248F), located in the second transmembrane spanning region of the gene encoding a nicotinic acetylcholine receptor [en.wikipedia.org]
Paolo Tinuper, Francesca Bisulli, Federica Provini, Pasquale Montagna and Elio Lugaresi, Nocturnal Frontal Lobe Epilepsy: New pathophysiological interpretations, Sleep Medicine, 12, (S39), (2011). [doi.org]
Pathophysiology CHRNA4 The first mutation associated with ADNFLE is a serine to phenylalanine transition at position 248 (S248F), located in the second transmembrane spanning region of the gene encoding a nicotinic acetylcholine receptor α4 subunit. [ [ipfs.io]
Further functional studies will be required to ascertain the ADNFLE's pathophysiology. References 1. Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, F. et al. [nature.com]
Prevention
Physiological investigations of the receptor reconstituted with the mutated CHRNA4 subunit reveal that this insertion does not prevent the receptor function but increases its apparent affinity for ACh. [ncbi.nlm.nih.gov]
Anticonvulsants are the most successful medication in reducing and preventing seizures from reoccurring. [en.wikipedia.org]
To prevent contribution of calcium activated chloride channels, oocytes were first injected with 80 nl of a solution containing 10 mM BAPTA. [doi.org]
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