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Early Infantile Epileptic Encephalopathy Type 25

SLC13A5-Related Early Infantile Epileptic Encephalopathy


Presentation

  • Diagnosis [ edit ] The diagnosis is based on the clinical presentation and on typical electroencephalographic patterns. [19] Treatment [ edit ] Treatment outlook is poor.[en.wikipedia.org]
  • We report that all the patients carrying the p.A294V mutation presented the clinical and EEG characteristics of EOEE.[germaco.net]
  • Epilepsy syndromes that present in infancy or early childhood are usually severe and characterized by seizures as the primary manifestation, without associated metabolic or structural brain abnormalities.[bcbst.com]
  • Results: All eight children presented with intractable epilepsy since the neonatal period, developmental delay and progressive microcephaly. Whole exome sequencing identified 3 novel mutations.[n.neurology.org]
  • There was no transport activity from any of the mutant transporters, although some of the mutant transporter proteins were present on the plasma membrane.[molmed.org]
Thrombosis
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.ro]
  • [Factor V Leiden mutation as a cause of venous thrombosis]. Rev Neurol. 2004 Jan 16-31;38(2):136-9.Boel MJ. Behavioural and neuropsychological problems in refractory paediatric epilepsies.[malattierare.regione.veneto.it]
Heart Disease
  • -2626 153 Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence E-2637 155 Disorders of Micturition and Defecation E-2670 156 Poisoning and DrugInduced Neurologic Diseases E-2689 157 Neurologic Disorders in Children with Heart[books.google.ro]
Peripheral Neuropathy
  • Neuropathies E-2400 142 Acquired Peripheral Neuropathies E-2419 143 Inflammatory Neuropathies E-2436 144 Congenital Myasthenic Syndromes E-2451 145 Acquired Disorders of the Neuromuscular Junction E-2462 146 Duchenne and Becker Muscular Dystrophies E[books.google.ro]
  • neuropathy Sensorimotor neuropathy Abnormal brain FDG positron emission tomography Delayed speech and language development Cognitive impairment EEG with abnormally slow frequencies Myoclonic atonic seizures Photosensitive tonic-clonic seizures EEG with[mendelian.co]
Neurologic Manifestation
  • Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric[books.google.ro]
  • manifestations For SCN1A related Dravet syndrome / GEFSP2 / familial hemiplegic migraine: Treatment Some sodium channel agents such as phenytoin, carbamazepin and lamotrigine should be avoided Management Monitoring and management of progressive changes[swisscheckup.com]

Workup

  • The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies.[dnatesting.uchicago.edu]
  • The initial workup showed a partial deficit of the complex II of the respiratory chain in muscle and liver.[germaco.net]

Treatment

  • Currently, there are no effective treatments, but some antiepileptic drugs targeting the γ-aminobutyric acid system reduce seizure frequency.[molmed.org]
  • However, more research is needed in this area to definitely proof the effect of this treatment option. What you need to know.[epilepsygenetics.net]
  • Oral citrate, for the treatment of neurological symptoms related to citrate transporter deficiency, a disease with no existing treatment, will be discussed. Study Supported by: NA Disclosure: Dr. Al Ghamdi has nothing to disclose. Dr.[n.neurology.org]
  • 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]
  • TREATMENT Anti-seizure medication is often used for treatment, however, with Ohtahara syndrome, the seizures are near impossible to control. That is not to say that seizure freedom has not occurred, it has for a handful of children on medication.[sites.google.com]

Prognosis

  • Although the prognosis is not good, we as an organization and as parents, want to do what we can to provide a quality of life these children deserve. Through funding, support, and research, we are praying that this is a very real possibility.[sites.google.com]
  • Prognosis Prognosis is poor with death usually occurring in infancy (50% before age of 2). Survivors have severe psychomotor impairments with continuing seizures. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Depending on the severity, types of seizures, and prognosis, EEs can be classified into several major subtypes: Early Infantile EE (EIEE) or Ohtahara Syndrome is one of the most severe forms of EE and is characterized by the following: Presentation within[centogene.com]
  • Prognosis The prognosis is related to the underlying disorder. The severity of developmental impairment varies with the type of epilepsy. Early infantile epileptic encephalopathy (Ohtahara syndrome) The prognosis is very poor.[emedicine.medscape.com]
  • .  Poor prognosis with occ. early death. 3.  Neonates.  Early myoclonic encephalopathy.  Ohtahara syndrome.  Infancy.  West syndrome.  Dravet syndrome.  Childhood.  Myoclonic astatic epilepsy.  Epileptic encephalopathy with CSWS including Landau[slideshare.net]

Etiology

  • Structural brain etiologies Genetic etiologies (STXBP1, SLC25A22, CDKL5, ARX, SPTAN1, PCDH19, KCNQ2, SCN2A and others) Metabolic etiologies (mitochondrial disorders, non-ketotic hyperglyinemia, pyridoxine/pyridoxal-5-phosphate disorders, carnitine palmitoyl[epilepsydiagnosis.org]
  • Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities.[orpha.net]
  • The developmental prognosis partially depends on the etiology. When classified by etiology, normal development was described in 51% of cryptogenic cases versus only 6% of symptomatic cases.[emedicine.medscape.com]
  • Etiologic considerations Identification of the underlying etiology is also an important issue when considering appropriate management of neonatal seizures.[dovepress.com]
  • The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies.[dnatesting.uchicago.edu]

Epidemiology

  • Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch. Dis. Child. 1999; 81(5):431-3. PMID: 10519720 Trevathan, E, et al. The descriptive epidemiology of infantile spasms among Atlanta children.[invitae.com]
  • From basic mechanisms and epidemiology, through diagnosis and therapy, to quality of life issues, the new edition of this established reference covers every aspect of childhood epilepsy and will continue to be the definitive core text for all professionals[books.google.com]
  • Summary Epidemiology Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth.[orpha.net]
  • [Epidemiological and clinical study of West syndrome in Nagasaki Prefecture, Japan]. No To Hattatsu. 2001;33(1):15-20.Ormrod D, McClellan K. Topiramate: a review of its use in childhood epilepsy.[malattierare.regione.veneto.it]
  • Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients. Pediatr Neurol. 1998 Jan. 18(1):46-50. [Medline]. Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The epileptic encephalopathies are a group of age-specific epilepsy syndromes of diverse etiologies that share the potential for causing significant cognitive impairment.[emedicine.medscape.com]
  • While these gene discoveries initially had no direct link to the more severe epileptic encephalopathies, they laid the general pathophysiological concept, such as the channelopathy concept of the human epilepsies [Steinlein, 2004], which eventually provided[karger.com]
  • Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome.[malattierare.regione.veneto.it]
  • Moreover, emphasis on pathophysiology reflects the increasing importance of personalized therapy in patients with epileptic encephalopathy.[thieme-connect.com]

Prevention

  • Preventing cancer cells from getting enough energy represents a therapeutic strategy for cancer.[cusabio.com]
  • Research on SLC13A5 has focused on its role in obesity and diabetes; knocking out the SLC13A5 gene in mice prevents high-fat diet–induced obesity.[asbmb.org]
  • Here are a few of the companies that can test for SLC13A5 mutations: Centogene AG-the rare Disease Company , Germany GeneDx , United States Prevention Genetics , United States Genetic Services Laboratory , University of Chicago Blueprint Genetics , Finland[tessresearch.org]
  • HUS) , Strasbourg , France 4 Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, Université de Strasbourg, IGBMC-CERBM CNRS UMR7104, INSERM U964 , Illkirch , France 5 Department of Preventive[jmg.bmj.com]

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