These patients develop seizures before 12 weeks, often presenting with hemiclonic seizures or epileptic spasms, develop a severe hyperkinetic movement disorder, and have profound intellectual disability. [epilepsygenetics.net]

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]

Acronym EIEE14 Synonyms Malignant migrating partial seizures of infancy MMPSI Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Part of patients with SCN8A mutations presented only mental retardation without epilepsy [ 11 ]. [bmcmedgenet.biomedcentral.com]

The dissemination of the epileptogenic activity is more easily present in the immature brain due to the absence of restrictive inhibitory factors(); 5. [jped.com.br]

• Hearing Impairment

  hearing impairment, ability of independent walking and oromotor dysfunction requiring nasogastric tube or gastrostomy feeding). [journals.plos.org]

• Fracture

  98.37 4 of 4 ALG14 Congenital Myasthenic Syndrome AR 99.99 7 of 7 ALG2 Congenital Disorder Of Glycosylation Type II AR 99.61 7 of 7 ALG3 Congenital Disorder Of Glycosylation Type Id AR 99.2 25 of 25 ASCC1 Spinal Muscular Atrophy With Congenital Bone Fractures [igenomix.es]

• Febrile Seizures

  In 3 children, a (grand)parent had had febrile seizures as well, consistent with a diagnosis of genetic epilepsy with febrile seizure plus (GEFS+) syndrome. In only 1 of those 5 children had genetic testing been performed (case 16). [pediatrics.aappublications.org]

  13; Seizures, benign familial infantile, 5 AD 41 SCN9A 603415 primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; early infantile epileptic encephalopathy 6; generalized epilepsy with febrile seizures plus 7 AD, [centogene.com]

  seizures plus, Early infantile epileptic encephalopathy 6, Generalized epilepsy with febrile seizures plus, type 2, Febrile seizures, familial 3A AD 718 1585 SCN1B Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus [blueprintgenetics.com]

  Patients are described as having temperature sensitive seizures, hemiclonic seizures, and episodes of febrile status epilepticus. Important clinical differences are obvious, however. [epilepsygenetics.net]

  Seizures Plus, Type 2 Convulsions, Familial Febrile, 3 Febrile Convulsions, Familial, 3 Seizures, Familial Febrile, 3 GEFSP2 FEB3 GEFS+2 604403 Genetic Test Registry Generalized Epilepsy With Febrile Seizures Plus, Type 3 GEFS+, Type 3 GEFSP3 GEFS+3 [ukgtn.nhs.uk]

• Behavior Problem

  Individuals with KCNT1-related ADNFLE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems than individuals with ADNFLE due to other causes. [ncbi.nlm.nih.gov]

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]

• Hypsarrhythmia

  Most children, but not all, will have EEG readings of hypsarrhythmia. Infantile spasms usually stop by age five, but may be replaced by other seizure types. [childneurologyfoundation.org]

   EEG - suppression–burst activity, which evolves into hypsarrhythmia,accentuated during sleep,persists for prolonged periods.  Inborn errors of metabolism mc causes.  >50% die within weeks or months. 6. [slideshare.net]

  If a pattern called hypsarrhythmia is noted, especially during sleep, this can help to suggest that a patient has epileptic spasms. [rarediseases.org]

  The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia. Brain Dev. 1999;21(2):129-31.Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S. [malattierare.regione.veneto.it]

  Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome). J Clin Neurophysiol. 2003 Nov-Dec; 20 ( 6 ): 408 – 25. 4. Ohtahara, S, Yamatogi, Y. Epileptic encephalopathies in early infancy with suppression-burst. [cambridge.org]

• Spike-and-Slow-Waves

  […] paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according to seizure type. 16. [slideshare.net]

  EEG at age of 8 months showed sharp and spike waves in the right frontal during sleeping period, and 3–4 Hz slow-wave complexes in the occipital region during awake period. Seizures attacked 1–2 times per day. [bmcmedgenet.biomedcentral.com]

Shorter duration between the onset of IS and initiation of standard treatment appears to lead to an improved outcome; therefore early recognition of the seizures and early treatment are essential. [childneurologyfoundation.org]

It is felt that a shorter time between diagnosis and treatment will have a less deleterious effect on development compared to a longer lead-time to treatment. [rarediseases.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]

[…] options including current and up-to-date chapters on pharmaceuticals, surgical procedures, and additional and alternative treatments. [books.google.com]

Prognosis The prognosis for children with IS is largely dependent on the underlying cause. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. [childneurologyfoundation.org]

[…] of Psychiatry and Neurology 47(2) 309-311 1993 Phenobarbital in sera of epileptic mother and their infants American Journal of Therapeutics 2 968-971 1995 Books etc Evolution of seizures and EEG abnormalities in childhood onset epilepsy Elsevier 1990 Prognosis [researchmap.jp]

Neonatal seizures are usually multifactorial, and their prognosis is strongly related to their etiology(). [jped.com.br]

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]

The etiology or associated disorders involve a wide series of neonatal diseases and metabolic disorders. Neonatal seizures are usually multifactorial, and their prognosis is strongly related to their etiology(). [jped.com.br]

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]

April 06, 2015 ; 84 (14 Supplement) April 22, 2015 Guy Helman, Cas Simons, Laurie Griffin, Amy Pizzino, Miriam Bloom, Ryan Taft, Anthony Antonellis, Ya Ming Hou, Adeline Vanderver First published April 8, 2015, Abstract OBJECTIVE Identify the underlying etiology [neurology.org]

The high rate (42%) of mutations suggested that genetic testing of this IEE panel of genes is recommended for cryptogenic IEE with no etiology identified. [journals.plos.org]

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]

Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments. [books.google.com]

Proceedings of the International Symposium 1991 Clinical course and prognosis of childhood epilepsy : electroencephalographic aspects Proceedings of 2nd Congress of Asian and Oceanian Association of Child Neurology 1990 Research Grants & Projects An epidemiological [researchmap.jp]

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]

[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]

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem. 2007 ; 46 : 149 – 66. 44. Rubio-Gozalbo, ME, Heerschap, A, Trijbels, JM, De Meirleir, L, Thijssen, HO, Smeitink, JA. [cambridge.org]

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]

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]

Research The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders aimed at discovering new ways to prevent, diagnose, and treat these disorders. [childneurologyfoundation.org]

[…] liability on its part in the event of any damage to, or destruction of the venue by fire, shortage of labour, strikes, industrial unrest, public health measures, or any other cause beyond the control of the Dravet Syndrome Foundation Spain, which shall prevent [dravetfoundation.eu]

Early diagnosis of HSH is essential to avoid unnecessary ACD therapy, prevent irreversible neurological damage and eventual death. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. » References 1. [neurologyindia.com]

However, currently, developed countries mainly use less reactogenic acellular pertussis vaccines. 26 Moreover, cancellation of vaccination increases the risk of a vaccine-preventable disease (eg, pertussis, measles). [pediatrics.aappublications.org]

Clinico-electrical evolution in pre-hypsarrhythmic stage: towards prediction and prevention of West syndrome. Brain Dev. 2001;23(7):482-7.Ohtsuka Y, Kobayashi K, Ogino T, Oka E. Spasms in clusters in epilepsies other than typical West syndrome. [malattierare.regione.veneto.it]