Symptoma

Early Infantile Epileptic Encephalopathy Type 4

DS

The classification of patients under various epileptic syndromes is presented in Tables II and III. Eight patients in group A could not be classified under any defined epileptic syndrome presenting during this age. [indianpediatrics.net]

If discharges are present only during sleep, this is termed sleep activation. [emedicine.medscape.com]

Table 2 shows the percentage of participants that have presented with each form of epilepsy. The most frequent presentations were epileptic spasms and tonic-clonic seizures. [analesdepediatria.org]

•We characterize a new epilepsy-related SCN8A mutation, R850Q, in the human SCN8A channel and present gain-of-function properties of the mutant channel. [read.qxmd.com]

Abstract Background At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at [ijponline.biomedcentral.com]

  • Hypersomnia

    Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics. 2014;45(04):261-4. 8. [medscidiscovery.com]

  • Family History of Epilepsy

    Approximately 18% may have a poor cognitive outcome. [37] A family history of epilepsy and recurrent episodes of status epilepticus may portend a worse prognosis. [emedicine.medscape.com]

  • Neonate-Onset

    onset 0003623 Severe global developmental delay 0011344 Spastic paraplegia 0001258 Spastic tetraplegia 0002510 Status epilepticus Repeated seizures without recovery between them 0002133 Tremor 0001337 Variable expressivity 0003828 Showing of 24 Last [rarediseases.info.nih.gov]

    A novel STXBP1 mutation causes focal seizures with neonatal onset. J Child Neurol. 2012;27:811–814. Google Scholar SAGE Journals ISI 57. Rickman, C, Medine, CN, Bergmann, A, Duncan, RR. [journals.sagepub.com]

  • Spastic Paraplegia

    paraplegia 0001258 Spastic tetraplegia 0002510 Status epilepticus Repeated seizures without recovery between them 0002133 Tremor 0001337 Variable expressivity 0003828 Showing of 24 Last updated: 3/1/2020 Making a diagnosis for a genetic or rare disease [rarediseases.info.nih.gov]

    paraplegia 0 0 0 1 0 0 1 1 Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 0 1 1 Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 1 0 1 1 Spastic paraplegia [clinvarminer.genetics.utah.edu]

    paraplegia 30, autosomal recessive KIF5C Cortical dysplasia, complex, with other brain malformations 2 LGI1 Epilepsy, familial temporal lobe, 1 LIAS Hyperglycinemia, lactic acidosis, and seizures MBD5 Mental retardation, autosomal dominant 1 MCCC1 3- [asperbio.com]

No definite etiology could be established for either case despite an extensive metabolic workup. CT performed within three months of age in both cases was normal. Other workers have also often been unable to find the etiology for EME. [indianpediatrics.net]

We identified 26 patients with Infantile Epileptic Encephalopathy (IEE) of unknown etiology despite extensive workup and without any specific epilepsy syndromic phenotypes. [journals.plos.org]

Diagnostic workup In early myoclonic encephalopathy, EEG is characterized by a "burst-suppression" pattern with bursts of spikes, sharp waves, and slow waves, which are irregularly intermingled and separated by periods of electrical silence. [intechopen.com]

An EEG is an essential part of the workup for LGS. Neuroimaging is an important part of the search for an underlying etiology. LGS can be classified according to its suspected etiology as either idiopathic or symptomatic. [hindawi.com]

  • Hypsarrhythmia

    Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia ), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. [rarediseases.info.nih.gov]

    Patients 1, 2, 3, and 5 had hypsarrhythmia and/or suppression-burst pattern on EEG, and responded poorly to multiple anti-epileptic drugs. [journals.lww.com]

    The EEG will show an irregular pattern of suppression-bursts, progressing to hypsarrhythmia. Burst suppression is present in EEG tests during both wakefulness and sleep. [news-medical.net]

    Thus, EEG demonstrates primarily burst-suppression patterns in the neonatal period, hypsarrhythmia in infancy, and slow generalized spike-wave discharges (GSWDs) in early childhood. [hindawi.com]

  • EEG Slowing

    EEG findings that have been correlated with cognitive problems include a high awake or sleep spike index and intermittent EEG slowing. [19, 39, 40, 41, 42, 43] However, further investigations are needed to clarify these relationships and better define [emedicine.medscape.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Neuropsychological assessments should be performed in order to gauge developmental progress and the effect of treatments over time. [emedicine.medscape.com]

Prophylactic pharmacologic treatment is not advised [28]. [ijponline.biomedcentral.com]

Treatments Although the disorder in incurable, much can be done to improve the lives not only of the children but also the families. [intechopen.com]

These seizures are often associated with febrile events and may be refractory to treatment with anti-epileptic drugs (AEDs). [preventiongenetics.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]

Prognosis Children have a poor prognosis, experiencing developmental regression, and eventual severe mental retardation. [intechopen.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]

Thus, EE of children pose difficult problems of diagnosis and prognosis due to the polymorphism of their electroclinical and evolutive pattern. [indianpediatrics.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]

Etiology No clear etiology is found in approximately 40% of cases (Hrachovy, 2008 & Vigevano, 1992). [intechopen.com]

In thirteeen (35.1%) cases no definite underlying etiology could be established. Birth asphyxia and central nervous system infections accounted for a majority of cases with known etiology. [indianpediatrics.net]

Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities. [orpha.net]

No clear etiology is found in approximately 40% of cases. [hindawi.com]

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]

The descriptive epidemiology of infantile spasms among Atlanta children. Epilepsia. 1999; 40(6):748-51. PMID: 10368073 Baxter, P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch. Dis. Child. 1999; 81(5):431-3. [invitae.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]

Epidemiologic features of infantile spasms in Iceland. Epilepsia 1994;35:802–805. 44. Kivity S, Lerman P, Ariel R, Danziger Y, Mimouni M, Shinnar S. [e-cep.org]

Epidemiology EIEE was first identified in 1978. I t affects 1 to 1.6 in 100,000 individuals worldwide and is considered a very rare condition. This number includes types of spasms other than those seen in EIEE. [news-medical.net]

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]

Pathophysiology The underlying mechanisms of these disorders are still poorly understood. [intechopen.com]

The early onset of these disorders suggests that developmentally regulated alternative splicing of NaV1.2 may be an important consideration when elucidating the pathophysiological consequences of epilepsy-associated variants... [read.qxmd.com]

Neonatal seizures are distinguished according to the presentation as clinical seizures, electroclinical seizures and electroencephalographic seizures and based on the pathophysiology in epileptic and non-epileptic seizures [14]. [ijponline.biomedcentral.com]

Prevention No information is available. Genetic counseling might be helpful. 6.6. [intechopen.com]

In FSc, prophylactic treatment might be useful in reducing the frequency and the duration of the crises but is not considered able to prevent the onset of subsequent epileptic seizures [29]. [ijponline.biomedcentral.com]