Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals [books.google.com]

• Epilepsy

  If you would like to know more about epilepsy in general, please contact Epilepsy Action. [epilepsy.org.uk]

  Keywords Temporal Lobe Epilepsy Febrile Seizure Focal Seizure Infantile Spasm Focal Epilepsy These keywords were added by machine and not by the authors. [link.springer.com]

  5 weeks Generalized epilepsy with febrile seizures plus type 2 (SCN1A) TEST DETAILS Cost of Generalized epilepsy with febrile seizures plus type 2 (SCN1A) Test in India [dnalabsindia.com]

  Keywords: GEFS+, epilepsy, febrile seizures, cognitive, behavior, neuropsychological DOI: 10.3233/PEP-14081 Journal: Journal of Pediatric Epilepsy, vol. 3, no. 2, pp. 93-106, 2014 [content.iospress.com]

• Fever

  If the child has a fever, it may be helpful to give her an anti-fever medication such as acetaminophen to keep the fever down and make her more comfortable, although one study has found that this does not prevent seizures. [aboutkidshealth.ca]

  Postictal fever (unlikely unless the seizure lasted >10 minutes; usually they would have a temperature >38°C). [patient.info]

  Age, neurologic status before the illness, and fever are the same as for simple febrile seizure This seizure is either focal or prolonged (ie, >15 min), or multiple seizures occur in close succession, i.e. within the same fever episode Symptomatic febrile [emedicine.medscape.com]

  Febrile seizures are convulsions that can happen when a young child has a fever above 100.4°F (38°C). (Febrile means "feverish.") The seizures usually last for a few minutes and stop on their own. The fever may continue for some time. [kidshealth.org]

  A febrile seizure may also be the presenting sign of a fever episode. [aafp.org]

• Disability

  In addition, three quarters of ASD patients also manifest severe intellectual disability. [books.google.com]

  Our investigation focused on the associated diagnoses: conduct disorder, attention deficit/hyperactivity disorder (ADHD), specific language impairment (SLI), specific learning disorders and intellectual disability (ID). [content.iospress.com]

  Please enable JS and disable any ad blocker [cairn.info]

  In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. [epilepsy.org.uk]

• Weakness

  The most common types of seizure in people with GEFS+ include myoclonic seizures, which cause involuntary muscle twitches; atonic seizures, which involve sudden episodes of weak muscle tone; and absence seizures, which cause loss of consciousness for [ghr.nlm.nih.gov]

  There may be intermittent or permanent muscle weakness on the same side. Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later. [epilepsywarriors.org]

  In this model, individual genes that increase the susceptibility to epilepsy have a relatively weak impact. Multiple genetic defects, and/or particular combination of genes, probably increase the risk by a greater amount. [bcidaho.com]

• Pallor

  Early symptoms are: leg pains, cold hands and feet, pallor or mottled skin. [ 11 ] Establish whether it was a febrile seizure. This may be difficult to decide if the seizure occurs early in the illness. Parental perceptions of fever are valid. [patient.info]

• Seizure

  They may include febrile seizures (febrile convulsions); febrile seizures plus; tonic-clonic seizures; absence seizures; myoclonic seizures; atonic seizures (drop attacks); and focal (partial) seizures. [epilepsy.org.uk]

  There is a variety of clinical phenotypes, including typical febrile seizures (49%), FS+ (24%), and other seizure types (13%) such as absences, myoclonic or atonic seizures, and focal seizures. [epilepsy.com]

  Also, FS+ could refer to the presence of afebrile seizures. Initially, the afebrile seizures in these individuals were noted to be generalized, including absence, convulsions, and myoclonus and atonic seizures. [link.springer.com]

  5 weeks Generalized epilepsy with febrile seizures plus type 2 (SCN1A) TEST DETAILS Cost of Generalized epilepsy with febrile seizures plus type 2 (SCN1A) Test in India [dnalabsindia.com]

  […] defined by the association of typical febrile seizures (FS), febrile seizures plus (FS+), in which FS continues beyond 6 years of age, with or without afebrile generalized tonic-clonic seizures (GTCS). [cags.org.ae]

• Febrile Seizures

  5 weeks Generalized epilepsy with febrile seizures plus type 2 (SCN1A) TEST DETAILS Cost of Generalized epilepsy with febrile seizures plus type 2 (SCN1A) Test in India [dnalabsindia.com]

  Clinical manifestations Febrile seizures plus (FS+) comprise childhood onset of multiple febrile seizures that (unlike the typical febrile seizure) continue beyond the age of 6 years. [epilepsy.com]

  Family members had febrile seizures (FS) alone, febrile seizures plus (FS+), or afebrile seizures. FS+ was used to describe individuals who had some atypical feature to their FS such as a presentation before 3 months or after 6 years of age. [link.springer.com]

  They may include febrile seizures (febrile convulsions); febrile seizures plus; tonic-clonic seizures; absence seizures; myoclonic seizures; atonic seizures (drop attacks); and focal (partial) seizures. [epilepsy.org.uk]

  Test Cost : 3000.00 AED Reporting Time: 4 Week Sample Type: EDTA blood or DNA Generalized epilepsy with febrile seizures plus type 2 (SCN1A) Test Description : Generalized epilepsy with febrile seizures plus type 2 (SCN1A) genetic dna test for Neurological [dnalabsuae.com]

• Generalized Seizure

  In fact, generalized seizures are still the predominant afebrile generalized seizures in these families; however, temporal lobe epilepsy has also been... [link.springer.com]

  The predominant presence of this seizure type initially gave rise to the term "generalized epilepsy with febrile seizures plus"; however, the term “genetic epilepsy” is now preferred due to the presence of focal as well as generalized seizures in some [medlink.com]

  Myoclonic astatic seizures such as those of Doose syndrome (epilepsy with myoclonic astatic seizures) occur in 14%. Inter-ictal EEG Usually normal background with generalized discharges. Ictal EEG Depends on seizure type. [epilepsy.com]

  Generalized seizures are a result of abnormal activity on both sides of the brain. Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. [icdlist.com]

  […] but typically including simple febrile seizures, generalized seizures usually precipitated by fever after age 6 years, and partial seizures. [humpath.com]

• Myoclonus

  Initially, the afebrile seizures in these individuals were noted to be generalized, including absence, convulsions, and myoclonus and atonic seizures. [link.springer.com]

  DISEASE, COPPER-REPLACEMENT RESPONSIVE OCCIPITAL HORN SYNDROME Copper Atpase 2 (L62/29) WILSON DISEASE Dardarin/LRRK2 (N138/6) PARKINSON DISEASE 8 SUSCEPTIBILITY TO PARKINSON DISEASE Dicer (N167/7) PLEUROPULMONARY BLASTOMA Dopamine D2 receptor (N186/29) MYOCLONUS-DYSTONIA [neuromab.ucdavis.edu]

  […] epilepsy), full gene sequence Under CPT code 81404: ARX (aristaless related homeobox) (eg, X-linked lissencephaly with ambiguous genitalia, X-linked mental retardation), full gene sequence EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease [bcidaho.com]

  Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus – a state of continuous seizure requiring emergency medical care – also may occur. [epilepsywarriors.org]

  The p.Thr1174Ser substitution was described in a few families presenting heterogeneous phenotypes: migraine with and without aura accompanied by seizures [ 3 ], myoclonus and ataxic migraine syndrome [ 4 ], migraine and severe myoclonic epilepsy with [omicsonline.org]

• Global Developmental Delay

  developmental delay [ 5 ], myoclonic astatic epilepsy (MAE) [6], but also juvenile myoclonic epilepsy (JME) [ 7 ]. [omicsonline.org]

[…] considered in children aged 12-18 months, because clinical signs and symptoms of bacterial meningitis may be subtle in this age group In children older than 18 months, the decision to perform lumbar puncture rests on the clinical suspicion of meningitis See Workup [emedicine.medscape.com]

Some of the services we provide include: • Brachial Plexus Palsy treatment • Cerebral Palsy treatment • Epilepsy treatment • General Neurology treatment • Movement Disorders treatment • Neurofibromatosis Center treatment • Stroke treatment • Tuberous [neuro.wustl.edu]

Lachhwani Lippincott Williams & Wilkins, 2006 - 1247 من الصفحات Thoroughly updated, the Fourth Edition of The Treatment of Epilepsy: Principles and Practice remains the most comprehensive single-volume clinical reference on the epilepsies. [books.google.com]

Treatment Treatment very much depends on the seizure type or types each person has. For children (and adults) who only have febrile convulsions, regular treatment with epilepsy medicines is not usually required. [epilepsy.org.uk]

PPP2R5D, PPT1, PURA, SCN1A, SCN1B, SCN2A, SLC19A3, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, STX1B, SYNGAP1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2 Clinical Utility: Molecular confirmation of a clinical diagnosis To assist with decisions about treatment [genedx.com]

Prognosis The overall prognosis depends on the exact phenotype within the GEFS+ spectrum. In patients with mild phenotypes (FS, FS+) seizures often remit by adolescence. [orpha.net]

Prognosis The vast majority of febrile seizures are short and harmless. There is no evidence that short febrile seizures cause brain damage. [childneurologyfoundation.org]

Prognosis Seizures usually remit by mid-childhood (median 11 years). Development is usually normal. Differential diagnosis Febrile seizures. [epilepsy.com]

Prognosis [ 1, 14 ] Generally the prognosis is very good: By definition, febrile seizures do not recur beyond the age of 5 years approximately. [patient.info]

Evidence suggests, however, that they have little connection with cognitive function, so the prognosis for normal neurologic function is excellent in children with febrile seizures. [1] Epidemiologic studies have led to the division of febrile seizures [emedicine.medscape.com]

The first section of the book introduces the clinical aspects of the science of epileptology with chapters on pathophysiology, genetics, classification, syndromes, epidemiology, etiology, and differential diagnosis. [books.google.com]

Etiology Purely genetic disorder with profound heterogeneity. Inheritance is generally autosomal dominant with incomplete penetrance, but this may not be the only situation. Two loci are on chromosome 19q (GEFS+) and chromosome 2q (GEFS2). [epilepsy.com]

Etiology The GEFS phenotype may be caused by mutation in several genes. voltage-gated sodium channel beta-1 subunit gene (SCN1B) (MIM.600235) on 19q13 causes GEFS+ type 1. SCN1A gene (MIM.182389) on 2q24 causes GEFS+ type 2. [humpath.com]

Etiology Mutations in SCN1A (2q24.3) (most commonly) and SCN1B (19q13.12) have been identified as causal in several families with GEFS+. These genes encode two subunits of the neuronal sodium channel. [orpha.net]

In 14 (1.4%) of the 990 children, an underlying etiology related to the seizures or seizure susceptibility had been reported to the RIVM during stage 1 follow-up. [pediatrics.aappublications.org]

The first section of the book introduces the clinical aspects of the science of epileptology with chapters on pathophysiology, genetics, classification, syndromes, epidemiology, etiology, and differential diagnosis. [books.google.com]

Summary Epidemiology Prevalence is unknown but hundreds of cases have been described in the literature. Clinical description Phenotypes in patients can be variable, ranging from simple FS to epileptic encephalopathies including MAE and DS. [orpha.net]

Evidence suggests, however, that they have little connection with cognitive function, so the prognosis for normal neurologic function is excellent in children with febrile seizures. [1] Epidemiologic studies have led to the division of febrile seizures [emedicine.medscape.com]

Epidemiologic studies have led to the division of febrile seizures into 3 groups, as follows: Simple febrile seizures Complex febrile seizures Symptomatic febrile seizures Children with simple febrile seizures are neurologically and developmentally healthy [centogene.com]

Epidemiology [ 3 ] Between 2% and 5% of European children have a febrile convulsion. [ 7 ] By definition, febrile convulsions occur between 6 month and 5 years of age. [patient.info]

Pathophysiological mechanisms involved are multiplex, including race/gender nutrition, receptors/ion channels, dysgenesis, pharmacokinetics of AEDs, acute illnesses/inflammation and many others. [books.google.com]

Individuals may also present with SMEI, characterized by generally tonic-clonic seizures, impaired psychomotor development, myoclonic seizures, ataxia, and poor response to many anticonvulsants. [1] [6] Pathophysiology [ edit ] Type 1 [ edit ] Figure [en.wikipedia.org]

The World Health Organization reports that licensed vaccines are available to prevent or contribute to the prevention. [wikivisually.com]

Preventive treatment involving daily use of antiseizure medicines is not recommended because of their potential for harmful side effects. [childneurologyfoundation.org]

If, however, preventing subsequent febrile seizures is essential, oral diazepam would be the treatment of choice. [emedicine.medscape.com]

Giving these medicines around the clock is not recommended and won't prevent febrile seizures. [kidshealth.org]