We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. [ncbi.nlm.nih.gov]

AB - Dravet Syndrome (SMEI) is an idiopathic generalized epileptic syndrome presenting with heterogeneous phenotypes. [moh-it.pure.elsevier.com]

Results: In all 6 patients, global developmental delay and hypotonia were present from infancy, with onset of chorea around age 3-4 years. None had a history of seizures. [mdsabstracts.org]

No single cause has been identified, although in many cases structural brain damage is present. [en.wikipedia.org]

• Epilepsy

  and 5 with other undetermined types of epilepsy. [ncbi.nlm.nih.gov]

  […] with fever sensitivity, Epilepsy Research, 10.1016/j.eplepsyres.2016.05.015, 125, (32-36), (2016). [dx.doi.org]

• Pneumonia

  They both died from pneumonia at 1 year and 3 months, respectively. Whole-exome sequencing of one patient revealed a compound heterozygous BRAT1 mutations (c.176T>C (p.Leu59Pro) and c.962_963del (p.Leu321Profs*81)). [ncbi.nlm.nih.gov]

• Encephalopathy

  […] early infantile epileptic encephalopathy 6 EIEE13 Epileptic Encephalopathy, Early Infantile, type 13 Epileptic encephalopathy, early infantile, 15 Epileptic encephalopathy, early infantile, 13 EIEE15 Ohtahara Syndrome edit English Ohtahara syndrome neonatoal [wikidata.org]

  Abstract Early infantile epileptic encephalopathy or Ohtahara syndrome is the earliest form of the age-dependent epileptic encephalopathies. [ncbi.nlm.nih.gov]

  It is also known as early infantile epileptic encephalopathy (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. [icnapedia.org]

• Seizure

  Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. [web.archive.org]

  Seven of the 11 infants have remained seizure free (Engel class IA) and four are reportedly having rare to infrequent seizures (Engel class IIB). All patients experienced "catch up" development. [ncbi.nlm.nih.gov]

• Global Developmental Delay

  Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay. [ncbi.nlm.nih.gov]

  Gene GNAO1 Inheritance Pattern Autosomal dominant Position Chr16:56370711 Transcript NM_020988 DNA Change c.662C>A Protein Change p.A221D Early in life, the patient had trouble meeting her developmental milestones (global developmental delay). [undiagnosed.hms.harvard.edu]

  He started having tonic seizures from 4 months of age, with global developmental delay. On examination, there were no neurocutaneous markers, facial dysmorphism, or focal neurologic deficits. [n.neurology.org]

  Results: In all 6 patients, global developmental delay and hypotonia were present from infancy, with onset of chorea around age 3-4 years. None had a history of seizures. [mdsabstracts.org]

  She had severe global developmental delay from birth, and regression was not apparent with seizure onset. She walked at 2 years, never talked and remained incontinent. She was institutionalized at 4 years and never attended school. [dx.doi.org]

• Dystonia

  The participant, a 15 year old female with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria) was found to carry the following genetic change in the GNAO1 gene: c.662C [undiagnosed.hms.harvard.edu]

  Patient 3 initially showed bradykinesia, rigidity and dystonia; patient 1 resting tremor. All had been diagnosed with dyskinetic Cerebral Palsy (CP), without substantive MRI findings. [jnnp.bmj.com]

  Two of their patients had additional movement disorders including dystonia and chorea and athetosis. [epilepsygenetics.net]

  Wohlrab G, Uyanik G, Gross C, Hehr U, Winkler J, Schmitt B, Boltshauser E (2005) Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. [ncbi.nlm.nih.gov]

• Burst Suppression

  From Wikidata Jump to navigation Jump to search neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures Early Infantile Epileptic Encephalopathy Early Infantile Epileptic Encephalopathy with Burst-Suppression [wikidata.org]

  (E) EEG shows typical burst-suppression pattern (time base: 20 mm/s, gain: 10 μV/mm, high-frequency filter: 70 Hz, low-frequency filter: 1 Hz). [n.neurology.org]

  We report on an unexpected finding of CSWS in an 18-month-old male whose previous EEG at age 45 days was grossly abnormal with the presence of a burst suppression pattern during wakefulness and sleep. [ncbi.nlm.nih.gov]

  Other names for Ohtahara syndrome • Early infantile epileptic encephalopathy (EIEE) with burst-suppression Symptoms Seizures usually start in the first 7 to 10 days of life. [epilepsy.org.uk]

• Hypsarrhythmia

  The EEG demonstrates a suppression-burst pattern during waking and sleeping states that often evolves into hypsarrhythmia and followed later by a diffuse slow spike-wave pattern. [ncbi.nlm.nih.gov]

  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]

• Hypsarrhythmia

  The EEG demonstrates a suppression-burst pattern during waking and sleeping states that often evolves into hypsarrhythmia and followed later by a diffuse slow spike-wave pattern. [ncbi.nlm.nih.gov]

  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]

• Generalized Polyspikes

  […] slowing MRI-normal C-VI-7 16 yrs 9 mths 10 yrs GTCS, abs, MJ, FS 9 mths Mild – 6 yrs: generalized slowing 15 yrs: generalized polyspike wave MRI-normal C-VI-8 12 yrs 6 mths 2.5 yrs GTCS, FS Nil Borderline – – MRI-normal C-VI-10 2.5 yrs 18 mths Continuing [dx.doi.org]

We conclude that chloral hydrate could be useful in the treatment of severe epileptic encephalopathies. Possible indications of the drug for intractable epilepsy treatment are discussed. [ncbi.nlm.nih.gov]

Lachhwani Lippincott Williams & Wilkins, 2006 - 1247 Seiten Thoroughly updated, the Fourth Edition of The Treatment of Epilepsy: Principles and Practice remains the most comprehensive single-volume clinical reference on the epilepsies. [books.google.com]

Clinical course and treatment of 6 children with GNAO1 mutations causing a severe, life-threatening chorea [abstract]. [mdsabstracts.org]

Is there any treatment? Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful. [web.archive.org]

It is concluded that early detection of Ohtahara syndrome is of essential importance for the prognosis of newborns and little infants with seizures. [ncbi.nlm.nih.gov]

Read More Read Less Prognosis Prognosis The course of Ohtahara syndrome is severely progressive. If epilepsy surgery is not feasible, seizures become more frequent and are accompanied by delays in physical and cognitive development. [ninds.nih.gov]

This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders. Neurological Disorders and Stroke » [brainfacts.org]

With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. [ncbi.nlm.nih.gov]

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]

[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]

Mutual transition suggests the same pathophysiology among three syndromes and the age factor should be considered as the common denominator responsible for the manifestation of each of their own specific clinico-electrical features. [ncbi.nlm.nih.gov]

There is considerable clinical overlap between the two conditions and some authors have suggested that they are part of a spectrum since they have similar pathophysiologic pathways[6]. 1. a Ohtahara, S. et al. [icnapedia.org]

Citing Literature Number of times cited according to CrossRef: 33 Laura Gerosa, Maura Francolini, Silvia Bassani and Maria Passafaro, The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy [dx.doi.org]

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]

Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them. [web.archive.org]

Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them. View research on this topic. View studies being conducted about this condition. [brainfacts.org]

VNS therapy involves implanting a device that can prevent or lessen seizures. It works by sending mild pulses of electrical energy to the brain through the vagus nerve. [childneurologyfoundation.org]

View Article : Google Scholar : PubMed/NCBI 11 Fan X, Brass LF, Poncz M, Spitz F, Maire P and Manning DR: The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing [spandidos-publications.com]

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]