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Early infantile epileptic encephalopathy

A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

Epileptic encephalopathy

Total: 16

(per page)

PMID (PMCID)
29625812	MALE	Infant
	SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
	Su DJ, Lu JF, Lin LJ, Liang JS, Hung KL. Brain Dev. 2018;40(8):724-727.
	SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS).
28503590 (5417033)	OTHER
	Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
	Talvik I, Moller RS, Vaher M, Vaher U, Larsen LH, Dahl HA, Ilves P, Talvik T. Child Neurol Open. 2015;2(2):2329048X15583717.
	In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo GNAO1 mutation (c.692A>G; p.Tyr231Cys).
24170257	MALE	Infant
	A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
	Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R. J Child Neurol. 2014;29(2):249-53.
	Mutations in STXBP1 gene, encoding the syntaxin binding protein 1, have been recently described in Ohtahara syndrome, or early infantile epileptic encephalopathy with suppression-burst pattern, and in other early-onset epileptic encephalopathies.
24170257	MALE	Infant
	A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
	Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R. J Child Neurol. 2014;29(2):249-53.
	Mutations in STXBP1 gene, encoding the syntaxin binding protein 1, have been recently described in Ohtahara syndrome, or early infantile epileptic encephalopathy with suppression-burst pattern, and in other early-onset epileptic encephalopathies.
24814476	MIXED_SAMPLE
	Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.
	Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T. Eur J Paediatr Neurol. 2014;18(5):567-71.
	Somatic mosaicism, including germline, has been described in several epileptic encephalopathies such as Dravet syndrome, KCNQ2 neonatal epileptic encephalopathy, SCN8A epileptic encephalopathy and STXBP1 related Ohtahara syndrome.
24814476	MIXED_SAMPLE
	Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.
	Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T. Eur J Paediatr Neurol. 2014;18(5):567-71.
	Somatic mosaicism, including germline, has been described in several epileptic encephalopathies such as Dravet syndrome, KCNQ2 neonatal epileptic encephalopathy, SCN8A epileptic encephalopathy and STXBP1 related Ohtahara syndrome.
24814476	MIXED_SAMPLE
	Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.
	Zerem A, Lev D, Blumkin L, Goldberg-Stern H, Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T. Eur J Paediatr Neurol. 2014;18(5):567-71.
	Somatic mosaicism, including germline, has been described in several epileptic encephalopathies such as Dravet syndrome, KCNQ2 neonatal epileptic encephalopathy, SCN8A epileptic encephalopathy and STXBP1 related Ohtahara syndrome.
23422026	FEMALE	Infant
	A case of severe progressive early-onset epileptic encephalopathy: unique GABAergic interneuron distribution and imaging.
	Inoue T, Kawawaki H, Kuki I, Nabatame S, Tomonoh Y, Sukigara S, Horino A, Nukui M, Okazaki S, Tomiwa K, Kimura-Ohba S, Inoue T, Hirose S, Shiomi M, Itoh M. J Neurol Sci. 2013;327(1-2):65-72.
	Early-onset epileptic encephalopathies include various diseases such as early-infantile epileptic encephalopathy with suppression burst.
24095819	MALE	Infant
	A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.
	Barcia G, Barnerias C, Rio M, Siquier-Pernet K, Desguerre I, Colleaux L, Munnich A, Rotig A, Nabbout R. Eur J Med Genet. 2013;56(12):683-5.
	STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy.
23019763	MALE	Infant
	Evolution of Ohtahara syndrome to continuous spikes and waves during slow sleep in an infant.
	Poothrikovil RP, Koul RL, Mani R, Al Futaisi A. Neurodiagn J. 2012;52(3):261-74.
	The patient had clinical seizures beginning day 1 of life leading to the suspicion of Ohtahara syndrome (the earliest form of epileptic encephalopathy).
21762454	FEMALE	Infant
	STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
	Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, Morice-Picard F, Lacombe D, Chiron C, Ville D, Charles P, LeGuern E, Depienne C, Heron D. Epilepsia. 2011;52(10):1820-7.
	A diagnosis of early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) was made in most of them, with infantile spasms and nonsyndromic infantile epileptic encephalopathy being the diagnosis in other patients.
21762454	FEMALE	Infant
	STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
	Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, Morice-Picard F, Lacombe D, Chiron C, Ville D, Charles P, LeGuern E, Depienne C, Heron D. Epilepsia. 2011;52(10):1820-7.
	A diagnosis of early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) was made in most of them, with infantile spasms and nonsyndromic infantile epileptic encephalopathy being the diagnosis in other patients.
21108397	MIXED_SAMPLE	Infant, Newborn
	Familial Ohtahara syndrome due to a novel ARX gene mutation.
	Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, Bettella E, Marchi M, Vignoli A, Darra F, Murgia A, Bernardina BD. Am J Med Genet A. 2010;152A(12):3133-7.
	We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that evolved into West syndrome phenotype and epileptic encephalopathy.
9528030	FEMALE	Infant, Newborn
	[Early infantile epileptic encephalopathy and glycine encephalopathy].
	Gonzalez de Dios J, Moya M, Pastore C, Izura V, Carratala F. Rev Neurol. 1997;25(148):1916-8.
	Early infantile epileptic encephalopathy (EIEE) with suppression burst activity in EEG (Ohtahara syndrome) is a rare type of epileptic encephalopathy in infancy and represents the earliest type of age-related symptomatic generalized epilepsy.
9528030	FEMALE	Infant, Newborn
	[Early infantile epileptic encephalopathy and glycine encephalopathy].
	Gonzalez de Dios J, Moya M, Pastore C, Izura V, Carratala F. Rev Neurol. 1997;25(148):1916-8.
	Early infantile epileptic encephalopathy (EIEE) with suppression burst activity in EEG (Ohtahara syndrome) is a rare type of epileptic encephalopathy in infancy and represents the earliest type of age-related symptomatic generalized epilepsy.
7497179	FEMALE	Child
	[Early infantile epileptic encephalopathy].
	Martinez Bermejo A, Roche C, Lopez Martin V, Pascual Castroviejo I. Rev Neurol. 1995;23(120):297-300.
	Early infantile epileptic encephalopathy (EIEE) with burst-suppression (Ohtaharas syndrome) is a rare type of epileptic encephalopathy in infancy and represents the earliest type of age-related symptomatic generalised epilepsy.