GEFS+ more commonly presents in small families, or perhaps occurs with spontaneous mutations such that the genetic contributions may not be appreciated by the physicians caring for the patients, unless the individual presents with a severe phenotype, [clinicalgate.com]

Designed to be read cover-to-cover, this highly practical reference covers basic science, assessment, and treatment and uses clear, succinct narratives, lists, tables, and illustrations to present the essential information needed to understand all aspects [books.google.com]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.de]

It can present with intellectual disability, but some family members could present only with epilepsy ( Hardies et al 2013 ). [medlink.com]

• Cutis Laxa

  LAXA, X-LINKED MENKES DISEASE MENKES 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 [neuromab.ucdavis.edu]

  laxa type 2, classic type Autosomal recessive cutis laxa type 2A Autosomal recessive degenerative and progressive cerebellar ataxia Autosomal recessive distal hereditary motor neuropathy Autosomal recessive distal myopathy Autosomal recessive dopa-responsive [se-atlas.de]

• Brachydactyly

  HORMONE-SECRETING, SOMATIC PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS OSSEOUS HETEROPLASIA, PROGRESSIVE PSEUDOHYPOPARATHYROIDISM, TYPE IB PROLONGED BLEEDING TIME, BRACHYDACTYLY [neuromab.ucdavis.edu]

  […] anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse hair-brachydactyly [se-atlas.de]

• Small Head

  Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, movement and balance disorders that can cause severe functional deficits. [epilepsywarriors.org]

• Dysautonomia

  These conditions vary from patient to patient and may include: Cardiovascular conditions Dental health concerns Dysautonomia Orthopedic & scoliosis issues Sleep disturbances Weakened immunity Growth and weight should also be followed closely and parents [dravetfoundation.org]

  Familial advanced sleep-phase syndrome Familial caudal dysgenesis Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial cervical artery dissection Familial congenital mirror movements Familial cortical myoclonus Familial dysautonomia [se-atlas.de]

[…] 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]

Each chapter includes diagnostic and treatment algorithms to guide practitioners in clinical decision making. [books.google.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]

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]

Treatment for the actual seizure is generally not indicated, given the short duration. [aafp.org]

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]

The world’s foremost experts describe the phenotypes and subtypes of myoclonic epilepsies and the underlying molecular defects and summarize cutting-edge advances in molecular genetics that shed new light on the etiologies of these syndromes. [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 Dev Period Med 2014 Oct-Dec;18(4):426-31. PMID: 25874779 Wu FF, Gordon E, Hoffman EP, Cannon SC J Physiol 2005 Jun 1;565(Pt 2):371-80. Epub 2005 Mar 17 doi: 10.1113/jphysiol.2005.082909. [ncbi.nlm.nih.gov]

EPIDEMIOLOGY The discovery of GEFS+ postdates many of the classic and extensive epidemiologic studies of childhood epilepsy. The original patients described were from large families, which are undoubtedly quite rare. [clinicalgate.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]

Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.es]

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]

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]

PATHOPHYSIOLOGY Buy Membership for Pediatrics Category to continue reading. Learn more here Pellock's Pediatric Epilepsy [clinicalgate.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]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

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]