We report a case of 5-month-old girl with Ohtahara syndrome with hemimegalencephaly who presented with refractory seizures and ictal FDG PET/CT helped in localizing the seizure focus. [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]

• 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]

• 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]

  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]

• 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]

  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]

  It is also known as early infantile epileptic encephalopathy (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. Seizures begin before age 3 months. [epilepsy.com]

  Clinically, OS is characterized by a "burst suppression" pattern on an EEG. [en.wikipedia.org]

• 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]

• Focal Spikes

  In other patients, the EEG evolves into focal spike discharges or multiple independent spike foci. We report a 5-year-old girl with Ohtahara syndrome that persistently demonstrated tonic spasms and suppression-burst on multiple EEGs. [ncbi.nlm.nih.gov]

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]

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]

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

Application: IHC Species: human Author: Zhen Liu Pubmed ID: 24366063 Journal: Int J Mol Med Title: Overexpression of GNAO1 correlates with poor prognosis in patients with gastric cancer and plays a role in gastric cancer cell proliferation and apoptosis [ptglab.com]

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]

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]

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]