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 ====== Ohtahara syndrome ====== ====== Ohtahara syndrome ======
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 [{{ :content:ohtahara.jpg?direct&100|Shunsuke Ohtahara [1930-2013]}}]Ohtahara syndrome is a rare electroclinical epilepsy syndrome with onset in the neonatal period. It is also known as [[early infantile epileptic encephalopathy]] (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. It is named after [[Shunsuke Ohtahara]], the Japanese child neurologist who first described the syndrome in 1976 [(:cite:Ohtahara1976>Ohtahara, S. et al. No To Hattatsu. 1976; 8: 270–280)]. [{{ :content:ohtahara.jpg?direct&100|Shunsuke Ohtahara [1930-2013]}}]Ohtahara syndrome is a rare electroclinical epilepsy syndrome with onset in the neonatal period. It is also known as [[early infantile epileptic encephalopathy]] (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. It is named after [[Shunsuke Ohtahara]], the Japanese child neurologist who first described the syndrome in 1976 [(:cite:Ohtahara1976>Ohtahara, S. et al. No To Hattatsu. 1976; 8: 270–280)].
 ===== Epidemiology ===== ===== Epidemiology =====
   * Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K[(:cite:orphanet-ohtahara>RESERVED IU--AR. Orphanet: Early infantile epileptic encephalopathy Ohtahara syndrome [Internet]. [cited 2020 Jan 28]. Available from: http://icnapedia.org/s/ohtahara-syndrome)]   * Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K[(:cite:orphanet-ohtahara>RESERVED IU--AR. Orphanet: Early infantile epileptic encephalopathy Ohtahara syndrome [Internet]. [cited 2020 Jan 28]. Available from: http://icnapedia.org/s/ohtahara-syndrome)]
 ===== Pathophysiology ===== ===== Pathophysiology =====
-Majority of Ohtahara syndrome patients have an underlying structural abnormality. The associated structural abnormalities include hemimegalencephaly, porencephaly, [[dentato-olivary dysplasia]][(:cite:schlumberger1992>Schlumberger, E.et al. Early-infantile epileptic syndrome(s) with suppression-burst: Nosological considerations. in: J. Roger, M. Bureau, C.H. Dravet, F.E. Dreifuss, A. Perret, P. Wolf (Eds.) Epileptic syndromes in infancy, childhood, and adolescence. John Libbey & Company Ltd., London; 1992: 35–42)], [[agenesis of the corpus callosum]], [[agenesis of the mamillary bodies]][(:cite:pmid11488899>{{pubmed>short:11488899}})], [[cortical dysplasia]] and [[neuronal migration disorders]]. Ohtahara syndrome has also been reported to be caused by underlying metabolic conditions including [[nonketotic hyperglycinemia]], cytochrome C oxidase deficiency, [[pyridoxine dependency]], [[carnitine palmitoyltransferase deficiency]], [[Leigh encephalopathy]], [[biotinidase deficiency]] and [[mitochondrial respiratory chain complex I deficiency]].+Majority of Ohtahara syndrome patients have an underlying structural abnormality. The associated structural abnormalities include hemimegalencephaly, porencephaly, [[dentato-olivary dysplasia]][(:cite:schlumberger1992>Schlumberger, E.et al. Early-infantile epileptic syndrome(s) with suppression-burst: Nosological considerations. in: J. Roger, M. Bureau, C.H. Dravet, F.E. Dreifuss, A. Perret, P. Wolf (Eds.) Epileptic syndromes in infancy, childhood, and adolescence. John Libbey & Company Ltd., London; 1992: 35–42)], [[agenesis of the corpus callosum]], [[agenesis of the mamillary bodies]][(:cite:pmid11488899>{{pmid>long:11488899}})], [[cortical dysplasia]] and [[neuronal migration disorders]]. Ohtahara syndrome has also been reported to be caused by underlying metabolic conditions including [[nonketotic hyperglycinemia]], cytochrome C oxidase deficiency, [[pyridoxine dependency]], [[carnitine palmitoyltransferase deficiency]], [[Leigh encephalopathy]], [[biotinidase deficiency]] and [[mitochondrial respiratory chain complex I deficiency]].
 ===== Genetics ===== ===== Genetics =====
-Although structural abnormalities are the most common underlying finding in Ohtahara syndrome, genetic mutations have also been increasingly reported. Mutations known to be associated with Ohtahara syndrome include syntaxin binding protein 1 ([[https://ghr.nlm.nih.gov/gene/STXBP1|STXBP1]]) gene[(:cite:pmid18469812>{{pubmed>short:18469812}})], Aristaless-related homeobox ([[https://ghr.nlm.nih.gov/gene/ARX|ARX]]) gene, solute carrier family 25 ([[https://ghr.nlm.nih.gov/gene/SLC25A22|SLC25A22]]) gene. However these genetic abnormalities are also related to brain structural abnormalities. For e.g ARX gene mutations can result in hypoplastic corpus callosum, cerebral atrophy, abnormal cavum septum pellucidum and abnormal hippocampi and basal ganglia. STXBPI mutations have been associated with brain stem structural abnormalities. The tonic seizures seen in Ohtahara syndrome are thought to be originating in the brain stem[(:cite:pmid23044011>)].+Although structural abnormalities are the most common underlying finding in Ohtahara syndrome, genetic mutations have also been increasingly reported. Mutations known to be associated with Ohtahara syndrome include syntaxin binding protein 1 ([[https://ghr.nlm.nih.gov/gene/STXBP1|STXBP1]]) gene[(:cite:pmid18469812>{{pmid>long:18469812}})], Aristaless-related homeobox ([[https://ghr.nlm.nih.gov/gene/ARX|ARX]]) gene, solute carrier family 25 ([[https://ghr.nlm.nih.gov/gene/SLC25A22|SLC25A22]]) gene. However these genetic abnormalities are also related to brain structural abnormalities. For e.g ARX gene mutations can result in hypoplastic corpus callosum, cerebral atrophy, abnormal cavum septum pellucidum and abnormal hippocampi and basal ganglia. STXBPI mutations have been associated with brain stem structural abnormalities. The tonic seizures seen in Ohtahara syndrome are thought to be originating in the brain stem[(:cite:pmid23044011>)].
  
 Other genes associated with Ohtahara syndrome include [[https://ghr.nlm.nih.gov/gene/CDKL5|CDKL5]]; [[https://ghr.nlm.nih.gov/gene/SPTAN1|SPTAN1]]; [[https://ghr.nlm.nih.gov/gene/KCNQ2|KCNQ2]]; [[https://ghr.nlm.nih.gov/gene/ARHGEF9|ARHGEF9]]; [[https://ghr.nlm.nih.gov/gene/PCDH19|PCDH19]]; [[https://ghr.nlm.nih.gov/gene/PNKP|PNKP]]; [[https://ghr.nlm.nih.gov/gene/SCN2A|SCN2A]]; [[https://ghr.nlm.nih.gov/gene/PLCB1|PLCB1]]; [[https://ghr.nlm.nih.gov/gene/SCN8A|SCN8A]]; [[https://ghr.nlm.nih.gov/gene/ST3GAL3|ST3GAL3]]; [[https://ghr.nlm.nih.gov/gene/TBC1D24|TBC1D24]]; [[https://ghr.nlm.nih.gov/gene/BRAT1|BRAT1]] Other genes associated with Ohtahara syndrome include [[https://ghr.nlm.nih.gov/gene/CDKL5|CDKL5]]; [[https://ghr.nlm.nih.gov/gene/SPTAN1|SPTAN1]]; [[https://ghr.nlm.nih.gov/gene/KCNQ2|KCNQ2]]; [[https://ghr.nlm.nih.gov/gene/ARHGEF9|ARHGEF9]]; [[https://ghr.nlm.nih.gov/gene/PCDH19|PCDH19]]; [[https://ghr.nlm.nih.gov/gene/PNKP|PNKP]]; [[https://ghr.nlm.nih.gov/gene/SCN2A|SCN2A]]; [[https://ghr.nlm.nih.gov/gene/PLCB1|PLCB1]]; [[https://ghr.nlm.nih.gov/gene/SCN8A|SCN8A]]; [[https://ghr.nlm.nih.gov/gene/ST3GAL3|ST3GAL3]]; [[https://ghr.nlm.nih.gov/gene/TBC1D24|TBC1D24]]; [[https://ghr.nlm.nih.gov/gene/BRAT1|BRAT1]]
 ===== Clinical features ===== ===== Clinical features =====
-Ohtahara syndrome presents in early infancy, within the first 3 months of age, and often within the first 2 weeks of life[(:cite:pmid6534199>{{pubmed>short:6534199}})]. Infants develop tonic spasms that are either generalized or lateralized. The spasms occur either singly or in clusters and are unrelated to the sleep cycle. The spasms can occur several times per day and typically last upto 10 seconds. Some children also develop other seizure types including focal motor seizures, hemiconvulsions, or generalized tonic-clonic seizures.+Ohtahara syndrome presents in early infancy, within the first 3 months of age, and often within the first 2 weeks of life[(:cite:pmid6534199>{{pmid>long:6534199}})]. Infants develop tonic spasms that are either generalized or lateralized. The spasms occur either singly or in clusters and are unrelated to the sleep cycle. The spasms can occur several times per day and typically last upto 10 seconds. Some children also develop other seizure types including focal motor seizures, hemiconvulsions, or generalized tonic-clonic seizures.
 ===== Electrographic features ===== ===== Electrographic features =====
 <figure label> <figure label>
 {{:content:ohtahara-syndrome.jpg?direct&400|img|title}} {{:content:ohtahara-syndrome.jpg?direct&400|img|title}}
-<caption>Electroencephalogram of a 3-month old girl showing typical suppression burst pattern seen in Ohtahara syndrome. Time base, 30 mm/second; sensitivity, 10 μV/mm. (Adapted from Beal et al.2012[(:cite:pmid23044011>{{pubmed>short:23044011}})]</caption>+<caption>Electroencephalogram of a 3-month old girl showing typical suppression burst pattern seen in Ohtahara syndrome. Time base, 30 mm/second; sensitivity, 10 μV/mm. (Adapted from Beal et al.2012[(:cite:pmid23044011>{{pmid>long:23044011}})]</caption>
 </figure> </figure>
  
 In Ohtahara syndrome electroencephalograms charactaristically show a suppression burst pattern, with bursts of high-amplitude spikes and polyspikes that alternate at a regular rate with periods of electric suppression (see Figure 1). The bursts  In Ohtahara syndrome electroencephalograms charactaristically show a suppression burst pattern, with bursts of high-amplitude spikes and polyspikes that alternate at a regular rate with periods of electric suppression (see Figure 1). The bursts 
-coincide with the tonic spasms[(:cite:pmid11701283>{{pubmed>short:11701283}})]. The pattern typically remains the same during both wakefulness and sleep.+coincide with the tonic spasms[(:cite:pmid11701283>{{pmid>long:11701283}})]. The pattern typically remains the same during both wakefulness and sleep.
 ==== Inter-ictal EEG ==== ==== Inter-ictal EEG ====
   * Pseudorhythmic repetitive suppression-burst pattern without physiological rhythms   * Pseudorhythmic repetitive suppression-burst pattern without physiological rhythms
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