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]

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]

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]

•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]

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]

• Crying

  […] usual description of STXBP1 syndrome as an epileptic encephalopathy, in some cases the initial symptoms were not related to seizures, convulsions or spasms, but involved motor difficulties, psychomotor retardation, neurologic signs or uncontrollable crying [analesdepediatria.org]

• Pneumonia

  Death is often due to pneumonia or other complications of a complex disability. Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities. [orpha.net]

  Prognosis Early mortality is common in children severely affected by EIEE, often due to seizures, chest infections and pneumonia. Due to recurring seizures, children experience developmental regression and lose skills they have learned. [news-medical.net]

  Death is often due to strain from seizure activity, pneumonia or other complications from motor disabilities.[8] Prospects of recovering from OS after hemispherectomy surgery has been shown to be favorable, with patients experiencing "catch up" in development [en.wikipedia.org]

  After ab ingestis pneumonia, percutaneous endoscopic gastrostomy was performed at age 7 months. Recurrent respiratory infections prompted frequent hospitalizations with oxygen therapy or continuous positive airway pressure support. [ng.neurology.org]

• Hypertension

  Genetic variation in the KCNMA1 potassium channel alpha subunit as risk factor for severe essential hypertension and myocardial infarction. J. Hypertens. 26, 2147–2153 (2008). 25 Du, W. et al. [nature.com]

  […] dyskinesia 0 0 0 1 0 0 1 1 Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1 Progressive familial heart block type 1B 0 0 0 0 0 0 1 1 Progressive myoclonus epilepsy with ataxia 0 0 0 1 0 0 1 1 Pseudoxanthoma elasticum 0 0 0 1 0 0 1 1 Pulmonary arterial hypertension [clinvarminer.genetics.utah.edu]

• Cyanosis

  The seizures are often prolonged focal hypomotor and occur in clusters, with prominent vegetative symptoms (apnea, cyanosis, mydriasis), evolving to clonic or bilateral tonic-clonic manifestations... [read.qxmd.com]

  He first came to medical attention at 5 months of age after an episode of staring, right arm jerking, and perioral cyanosis, which was diagnosed as idiopathic partial epilepsy. [hindawi.com]

• Flushing

  The semiology of partial seizures is subtle, consisting, for instance, of eye deviation or autonomic phenomena such as apnea or flushing of the face (Dalla Bernardina, 1983). [intechopen.com]

  The semiology of partial seizures is subtle, consisting, for instance, of eye deviation or autonomic phenomena such as apnea or flushing of the face. [hindawi.com]

• Encephalopathy

  encephalopathy type 4 (STXBP1) TEST DETAILS [dnalabsindia.com]

  Home Diseases Early infantile epileptic encephalopathy 4 Title Other Names: EIEE4; STXBP1-related early-onset encephalopathy; STXBP1 disorders This disease is grouped under: Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile [rarediseases.info.nih.gov]

  The more severe epileptic encephalopathies fall into this category. [emedicine.medscape.com]

  ALG3 Congenital disorder of glycosylation, type Id ALG13 Epileptic encephalopathy, early infantile, 36 AMT Glycine encephalopathy AP3B2 Epileptic encephalopathy, early infantile, 48 ARHGEF9 Epileptic encephalopathy, early infantile, 8 ARHGEF15 Early [asperbio.com]

  […] infantile epileptic encephalopathy, 40 AR 3 HCN1 602780 early infantile epileptic encephalopathy 24 AD 6 ITPA 147520 Epileptic encephalopathy, early infantile, 35 AR 4 KCNA2 176262 Epileptic encephalopathy, early infantile, 32 AD 4 KCNB1 600397 early [centogene.com]

• Ataxia

  early infantile, 69 CACNA1H Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV CACNB4 Episodic ataxia, type 5; Epilepsy, idiopathic generalized, susceptibility to, 9 CASK FG syndrome 4; Mental retardation, with [asperbio.com]

  He has also had episodic ataxia since late infancy that becomes exacerbated by viral illnesses. [hindawi.com]

  […] apraxia; MCSZ – Microcephaly seizures and developmental delay; GEFSP – Generalized epilepsy with febrile seizures plus; CIAT – Cognitive impairment with or without cerebellar ataxia; SFN - Small fiber neuropathy; CIP – Congenital insensitivity to pain [centogene.com]

  SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology. 2010;75(16):1454-8. 7. Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, et al. [medscidiscovery.com]

  As can be seen in Fig. 3, the most frequent motor features were ataxia and hypotonia. [analesdepediatria.org]

• Cerebellar Ataxia

  […] apraxia; MCSZ – Microcephaly seizures and developmental delay; GEFSP – Generalized epilepsy with febrile seizures plus; CIAT – Cognitive impairment with or without cerebellar ataxia; SFN - Small fiber neuropathy; CIP – Congenital insensitivity to pain [centogene.com]

  KCNC1 Epilepsy, progressive myoclonic 7 KCNH1 Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1 KCNJ10 Enlarged vestibular aqueduct, digenic; SESAME syndrome KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; Cerebellar [asperbio.com]

  ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY 0 0 0 0 0 0 1 1 CHARGE association 0 0 0 1 0 0 1 1 Capillary malformation-arteriovenous malformation 1 0 0 0 1 0 0 1 1 Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 0 0 0 1 1 Cerebral [clinvarminer.genetics.utah.edu]

• Apraxia

  […] infantile, 77 PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3 PLCB1 Epileptic encephalopathy, early infantile, 12 PLPBP Epilepsy, early-onset, vitamin B6-dependent PNKP Microcephaly, seizures, and developmental delay; Ataxia-oculomotor apraxia [asperbio.com]

  […] retardation autosomal dominant; EJM – Juvenile myoclonic epilepsy; ECA – Childhood absence epilepsy; BFNS – Benign familial neonatal seizures; ENFL – Epilepsy nocturnal frontal lobe; PNH - Paroxysmal nocturnal hemoglobinuria; AOA – Ataxia-oculomotor apraxia [centogene.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

  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]

  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]

  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]

  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]

EIEE4 is caused by changes (mutations ) in the STXBP1gene and is inherited in an autosomal dominant manner.[1][2] Treatment is based on the signs and symptoms present in each person. [rarediseases.info.nih.gov]

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

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

The calcium channel blocker nicardipine has been used in the treatment of acquired epileptic aphasia. [hindawi.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]

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]

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 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]

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 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]

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

[…] malformations such as hemimegalencephaly, porencephaly, Aicardi syndrome, olivary-dentate dysplasia, agenesis of mamillary bodies, linear sebaceous nevus syndrome, cerebral dysgenesis, and focal cortical dysplasia have been noted as suspect causes.[9] Pathophysiology [en.wikipedia.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]

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]

[…] treatment for abnormal muscle tone, stomach or lung problems.[7] A ketogenic diet may be suggested for reduction of symptoms.[2] Should the child survive past the age of three, vagus nerve stimulation could be considered.[2] No recent findings allude to preventive [en.wikipedia.org]

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]