Presentation
The genetics of this condition is largely unknown.We present the electroclinical and genetic findings of 15 MTLE Italian families. [ncbi.nlm.nih.gov]
In some patients, only two of the three “seizure types” are present. Sleep deprivation easily provokes the seizures. [aafp.org]
An assessment of development is important for children presenting with a seizure. [ 1 ] Presenting features in children are similar to those in adults. [patient.info]
LGI1 is a gene for familial lateral temporal lobe epilepsy, an inherited focal epilepsy that mainly presents with the rare epilepsy syndrome of lateral temporal lobe epilepsy. [epilepsygenetics.net]
Entire Body System
- Epilepsy
Author information 1 Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, West Heidelberg, Victoria, Australia. [email protected] Abstract Temporal lobe epilepsy is the commonest partial epilepsy of adulthood [ncbi.nlm.nih.gov]
UniProtKB/Swiss-Prot : 76 Epilepsy, familial temporal lobe, 5: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. [malacards.org]
Epilepsy familial temporal lobe type 5 (CPA6) DNA Test Leave Message Reporting Time: 5 Week Test Cost: 19000.00 /- Rs Sample Type: EDTA blood or DNA Epilepsy familial temporal lobe type 5 (CPA6) Test Description Epilepsy familial temporal lobe type 5 [dnalabsindia.com]
Moreover his work on establishing the syndromic diagnosis of epilepsies and the appropriate video-EEG methodology for their diagnosis, has been regarded by some as ground breaking and he is recognised as one the leading authorities on epilepsy. [books.google.de]
Epilepsy Diet Epilepsy Facts Epilepsy Awareness Month Epilepsy Seizure Autism Awareness Epilepsy Surgery Temporal Lobe Epilepsy Disability Awareness True Facts Forward is epilepsy awareness month Epilepsy Facts Epilepsy Awareness Month Epilepsy Seizure [pinterest.fr]
- Fever
[…] followed by myoclonic seizures without fever Seizures with fever followed by partial (focal) seizures without fever Seizures with extreme sensitivity to environmental temperature Partial and generalized seizures with onset in infancy Familial Frontal [swedish.org]
Medial temporal lobe epilepsy usually begins at the end of a first or second decade in most people, following either a seizure with fever or an early injury to the brain. [epilepsy.com]
Infants may develop lung or skin infections resulting in a fever. [psychology.wikia.com]
However, “provoked” seizures, such as those due to a fever in a young child or severe hypoglycemia, are not considered to be forms of epilepsy. Epilepsy and seizure disorders in adults and children can differ. [nyulangone.org]
Factors that may contribute to these seizures include screen brightness, sleep deprivation, fatigue, fever and short distance from the screen. [aafp.org]
- Pain
In addition, emotional factors including hunger, pain, anxiety, seeing blood, crowded environment, fear, and fatigue have a stimulatory effect. [ncbi.nlm.nih.gov]
The parietal lobe, located near the center of the brain, is responsible for processing information about the sense of touch, pain, and space. Parietal lobe epilepsy may result from head trauma, birth injury, stroke, tumor, or unknown causes. [nyulangone.org]
先天性無痛無汗症 Congenital insensitivity to pain with anhidrosis 無痛無汗症 1 不要 HPS1076 HPS1077 Congenital insensitivity to pain with anhidrosis (CIPA), unknown genetic etiology 先天性無痛無汗症、遺伝子型不明 1 不要 有 HPS2012 HPS2013 HPS2014 HPS2015 HPS2016 HPS2017 131. [cell.brc.riken.jp]
Complications 1. temporary facial pain 2. hypoesthesia in trigeminal territory 3. temporomandibular joint dysfunction 4. retromandibular hematoma In patients in whom the result of FO electrodes shows bilateral independent or nonlateralized ictal onset [webmedcentral.com]
- Movement Disorder
The most important imitators of epileptic seizures are dizziness, vertigo, syncope, complicated migraine; and somewhat less frequently sleep disorders, transient cerebral ischemia, paroxysmal movement disorders, endocrine or metabolic dysfunction, delirium [books.google.ro]
Abstract Non epileptic paroxysmal events are recurrent movement disorders with acute onset and ending, which may mimic epilepsy. [ncbi.nlm.nih.gov]
disorder Panel Composition Technical Details Methodology Targeted capture of all coding exons and exon-intron boundaries followed by NGS. [swisscheckup.com]
- Weight Loss
Here's a short round-up of Epilepsy facts. epilepsy facts and figures -- part of a powerful series on epilepsy at Life Rearranged Ketogenic Diet Epilepsy Epilepsy Diet Epilepsy Awareness Month Weight Loss Plans Weight Loss Diets Best Diets Nurse Jackie [pinterest.fr]
Children must be queried about these focal episodes because they are not associated with loss or alteration of consciousness, have no postictal phase and may be remembered by a child who may not have complained to a parent about previous episodes. [aafp.org]
Psychiatrical
- Suggestibility
Currently four polymorphisms have been suggested as susceptibility genes for TLE. [jnnp.bmj.com]
The obtained results suggest that the occurrence of regular seizures during a critical period in early childhood neural maturation poses the greatest risk to cognitive development in the epilepsy population. [indiana.pure.elsevier.com]
Alteration in this GABA system during epileptogenesis is suggested from experimental data [ 9, 10 ]. [bmcmedgenet.biomedcentral.com]
And the condition that cut short his life may also have triggered the earliest monotheistic religion, suggests a new review of his family history. [newscientist.com]
PATIENTS AND METHODS: FMTLE was defined when two or more first-degree relatives had epilepsy suggesting a mesial temporal lobe origin. The occurrence of seizures with auditory auras was considered an exclusion criterion. [ncbi.nlm.nih.gov]
- Visual Hallucination
More detailed visual phenomenon, called complex visual hallucinations, can also occur, either independently or with elementary visual hallucinations. [childneurologyfoundation.org]
The first sign of an occipital lobe seizure can be visual hallucinations of flickering or colored lights, although these aren’t always present. [nyulangone.org]
- Abnormal Behavior
Seizure: Transient, abnormal electrical discharge from neurons with resultant abnormal behavior or movements. Simple partial seizure: Consciousness preserved during a seizure that involves only a small part of the brain. [childneurologyfoundation.org]
Neurologic
- Seizure
Seizures are usually accompanied by sensory symptoms, most often auditory in nature. MalaCards based summary : Epilepsy, Familial Temporal Lobe, 5, also known as etl5, is related to temporal epilepsy, familial and febrile seizures, familial, 11. [malacards.org]
[…] refractory epilepsies, often with a history of febrile seizures and with frequent hippocampal atrophy and high T₂ signal on magnetic resonance imaging. [ncbi.nlm.nih.gov]
However, this type of seizure can occur in adults and at any age. Generalized Convulsive Seizures Generalized convulsive seizures are any seizures that cause the body to convulse. [nyulangone.org]
[…] your worry of claim file… Epilepsy Facts Epilepsy Seizure Epilepsy Quotes Epilepsy Awareness Month Seizure Disorder Invisible Illness Sleep Seizures Seizures Non Epileptic Chronic Illness Forward 7 most common seizure triggers. [pinterest.fr]
These used to be called "partial seizures." Focal epilepsy seizures come in four categories: Focal aware seizures. If you know what's happening during the seizure, it's an "aware" seizure. These used to be called "simple partial seizures." [webmd.com]
- Febrile Seizures
[…] refractory epilepsies, often with a history of febrile seizures and with frequent hippocampal atrophy and high T₂ signal on magnetic resonance imaging. [ncbi.nlm.nih.gov]
FMTLE often associated with febrile seizures Two large families and some smaller kindred’s have been described with many individuals with both TLE and febrile seizures. [jnnp.bmj.com]
Factors prognostic of unprovoked seizures after febrile convulsions. N Engl J Med. 1987;316:493–8. 4. Berg AT, Shinnar S. Complex febrile seizures. Epilepsia. 1996;37:126–33. 5. [aafp.org]
Febrile Seizures Followed By Myoclonic Epilepsies Partial seizures Absence seizures GTC seizures Mesial Temporal lobe epilepsies GEFS+ (Epilepsy with Febrile seizures persisting after age 5 years) Dravet Syndrome and SCN 1 A mutations: Seizures with fever [swedish.org]
Seizures are usually accompanied by sensory symptoms, most often auditory in nature. MalaCards based summary : Epilepsy, Familial Temporal Lobe, 5, also known as etl5, is related to temporal epilepsy, familial and febrile seizures, familial, 11. [malacards.org]
- Irritability
Also, the medicines used to treat seizures can cause the child to be sleepy or irritable and can cause problems with focusing and paying attention. [childneurologyfoundation.org]
When causes including urinary tract infections, vulvovaginitis, and diaper dermatitis cause pruritus, the child accidentally finds out that they feel pleasure during movements they perform to eliminate irritation. [ncbi.nlm.nih.gov]
- Atonic Seizures
[…] spasms Dravet syndrome 10/30 Carolyn Carolyn Stasia Stasia Preston Myoclonic encephalopathy in non-progressive disorders Febrile seizures Early benign childhood occipital epilepsy Epilepsy with myoclonic-atonic seizures Benign epilepsy with centrotemporal [loyolamedicine.org]
He or she may also have atonic seizures, in which the body’s muscles suddenly lose strength, causing the eyelids to droop and the head to nod or the child to fall to the ground. [nyulangone.org]
- Staring Spells
However, these subtypes are more common, or occur exclusively, in childhood: Typical absences ('petit mal' seizures): petit mal epilepsy is manifest by frequent (as many as 100 times per day or more) episodes of brief staring spells (lasting seconds at [patient.info]
Workup
[…] lesion for neoplastic signal Electroencephalography (EEG); indicated in all patients with suspected temporal lobe epilepsy Magnetoencephalography (MEG); mainly used for coregistration with MRI to give magnetic source imaging in 3-dimensional space See Workup [emedicine.medscape.com]
This requires extensive workup with detailed brain imaging and EEGs. A neurosurgeon will then surgically remove the area of the brain that is causing the seizures. This is called epilepsy surgery. [childneurologyfoundation.org]
Treatment
Risk and treatment management includes, but is not limited to [6] : For ALDH7A1 related pyridoxine-dependent epilepsy and PNPO related pyridoxamine 5′-phosphate oxidase deficiency: Treatment Pyridoxine should be used For KCNQ2 related early infantile [swisscheckup.com]
Continuation of drug treatment Maintain a high level of vigilance for adverse effects of treatment. [patient.info]
Abou‐Khalil, The Genetics of Temporal Lobe Epilepsy and Implications for Treatment, Epilepsy Currents, 7, 4, (100-101), (2007). [doi.org]
It is important to determine the cause to help guide treatment. Cleveland Clinic News & More Cleveland Clinic News & More [my.clevelandclinic.org]
Not all uncomplicated childhood seizures require neuroimaging or treatment. [aafp.org]
Prognosis
Prognosis of epilepsy was generally good. Genetic study failed to show LGI1/Epitempin mutations or significative linkage to the investigated loci. [ncbi.nlm.nih.gov]
Studies on the prognosis of TLE-NL are still limited, so this assumption has not been confirmed to date. [dovepress.com]
Hippocampal atrophy and the prognosis of epilepsy: some answers, more questions. Neurology 67, 12–13 (2006). 36. Shorvon, S. & Luciano, A. L. Prognosis of chronic and newly diagnosed epilepsy: revisiting temporal aspects. Curr. Opin. [nature.com]
Prognosis Excellent. Patients are neurologically and mentally normal, and the condition does not appear to affect their otherwise normal life, particularly when on medication. [epilepsy.com]
Etiology
Evidence for a genetic etiology has been uncovered in only 30% of the 40 families. In the remaining 70% of families an acquired structural lesion is probably etiologic in some cases. [pediatrics.aappublications.org]
When idiopathic partial epilepsy syndromes were excluded, the 5 pairs accounted for 23% of monozygotic pairs with partial epilepsies, and 38% of monozygotic pairs with partial epilepsy and no known etiology. [ncbi.nlm.nih.gov]
結節性硬化症 Tuberous sclerosis complex (TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159. [cell.brc.riken.jp]
Epilepsy due to perinatal insults Epilepsy due to malformations of cortical development 4/16 Chandler Preston Chandler Epilepsy due to mitochondrial and metabolic disorders Benign neonatal seizures Breath holding spells 5/7 Chandler Amy Amy Cardiac etiologies [loyolamedicine.org]
Etiology Hippocampal sclerosis Approximately two thirds of patients with temporal lobe epilepsy treated surgically have hippocampal sclerosis as the pathologic substrate. [emedicine.medscape.com]
Epidemiology
Relevant External Links for RELN Genetic Association Database (GAD) RELN Human Genome Epidemiology (HuGE) Navigator RELN Atlas of Genetics and Cytogenetics in Oncology and Haematology: RELN No data available for Genatlas for RELN Gene The human reelin [genecards.org]
«The epidemiology of the epilepsies: future directions, International League Against Epilepsy». Epilepsia (n.º 38, págs. 614-8). Jallon P.; Loiseau, P.; Loiseau J. (2001). [cv.uoc.edu]
Epidemiology Approximately 50% of patients with epilepsy have partial epilepsy. Partial epilepsy is often of temporal lobe origin. [emedicine.medscape.com]
Epidemiology of temporal lobe epilepsy. Can J Neurol Sci 27 (Suppl 1): S6–10; discussion S20–1. ↑ Shinnar S, Hesdorffer DC, Nordli DR, et al. (July 2008). Phenomenology of prolonged febrile seizures: results of the FEBSTAT study. [psychology.wikia.com]
Pathophysiology
The semiology and pathophysiology of the secondary generalized tonic-clonic seizures. In: Hirsch E, Andermann F, Chauvel P, et al., eds. Generalized Seizures: from Clinical Phenomenology to Underlying Systems and Networks. [webmedcentral.com]
(**) indicates p https://doi.org/10.1371/journal.pone.0012740.g002 Discussion Genetic contribution to human MTLE is well recognized but little is known about the genes participating in the underlying pathophysiology [25]. [journals.plos.org]
Prevention
The diagnosis can prevent unnecessary drug use and psychological damage. [ncbi.nlm.nih.gov]
In addition, parents should also be aware that these drugs may prevent recurrences but do not alter the long-term prognosis for attaining seizure remission. [aafp.org]
Second, we could not obtain video-EEG monitoring results from all of our patients, thus preventing the detection of exact seizure semiology, including automatisms and ictal EEG patterns. [dovepress.com]
PREVENTION Seizures can be prevented by regularly taking the prescribed medications. In fact, not taking medications is the most common cause for breakthrough seizures. During times of illness or stress, seizures can occur. [childneurologyfoundation.org]
It has been shown that observing the set with one eye covered prevents the occurrence of these seizures. [patient.info]