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.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.

合計: 31

（表示件数）

PMID (PMCID)
31191235	OTHER
	Antiepileptic Effects of a Novel Non-invasive Neuromodulation Treatment in a Subject With Early-Onset Epileptic Encephalopathy: Case Report With 20 Sessions of HD-tDCS Intervention.
	Meiron O, Gale R, Namestnic J, Bennet-Back O, Gebodh N, Esmaeilpour Z, Mandzhiyev V, Bikson M. Front Neurosci. 2019;13:547.
	We investigated the clinical impact of repetitive (20 daily sessions) cathode-centered 4 1 HD-tDCS (1 mA, 20 min, 4 mm ring radius) over the dominant seizure-generating cortical zone in a 40-month-old child suffering from a severe neonatal epileptic syndrome known as Ohtahara syndrome (OS).
30415926	FEMALE	Infant
	Ketogenic diet as a successful early treatment modality for SCN2A mutation.
	Turkdogan D, Thomas G, Demirel B. Brain Dev. 2019;41(4):389-391.
	SCN2A mutations have been described in a very broad spectrum of clinical phenotypes including benign (familial) neonatal/infantile seizures and early infantile epileptic encephalopathies (EIEE) as Ohtahara syndrome (OS), Dravet syndrome (DS), epilepsy of infancy with migrating focal seizures and West syndrome (WS).
30415926	FEMALE	Infant
	Ketogenic diet as a successful early treatment modality for SCN2A mutation.
	Turkdogan D, Thomas G, Demirel B. Brain Dev. 2019;41(4):389-391.
	SCN2A mutations have been described in a very broad spectrum of clinical phenotypes including benign (familial) neonatal/infantile seizures and early infantile epileptic encephalopathies (EIEE) as Ohtahara syndrome (OS), Dravet syndrome (DS), epilepsy of infancy with migrating focal seizures and West syndrome (WS).
30813219	MIXED_SAMPLE	Adult
	Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.
	Huang Q, Yu L, Ma M, Qi H, Wu Y. Medicine (Baltimore). 2019;98(8):e14698.
	The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes.
28687180	MALE	Infant, Newborn
	A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.
	Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, Osaka H, Yamagata T. Brain Dev. 2018;40(1):69-73.
	Most patients with a KCNQ2 mutation present with seizures starting in the neonatal period with varying severity, ranging from BFNS to Ohtahara syndrome.
29961512	FEMALE
	Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
	Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V. Semin Pediatr Neurol. 2018;26:28-32.
	Early infantile epileptic encephalopathy (EIEE1; OMIM #308350) is the earliest of these age-dependent encephalopathies, manifesting as tonic spasms, myoclonic seizures, or partial seizures, with severely abnormal electroencephalogram, often showing a suppression-burst pattern.
29961512	FEMALE
	Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
	Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V. Semin Pediatr Neurol. 2018;26:28-32.
	Early infantile epileptic encephalopathy (EIEE1; OMIM #308350) is the earliest of these age-dependent encephalopathies, manifesting as tonic spasms, myoclonic seizures, or partial seizures, with severely abnormal electroencephalogram, often showing a suppression-burst pattern.
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).
29699863	MALE	Infant
	Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.
	Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M. Brain Dev. 2018;40(8):728-732.
	Here we report 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS).
28195914	FEMALE	Infant
	Ictal PET in Ohtahara Syndrome With Hemimegalencephaly.
	Roy SG, Tripathi M, Tripathi M, Ramanujam B, Singhal A, Bal C. Clin Nucl Med. 2017;42(5):e263-e264.
	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.
28195914	FEMALE	Infant
	Ictal PET in Ohtahara Syndrome With Hemimegalencephaly.
	Roy SG, Tripathi M, Tripathi M, Ramanujam B, Singhal A, Bal C. Clin Nucl Med. 2017;42(5):e263-e264.
	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.
28195914	FEMALE	Infant
	Ictal PET in Ohtahara Syndrome With Hemimegalencephaly.
	Roy SG, Tripathi M, Tripathi M, Ramanujam B, Singhal A, Bal C. Clin Nucl Med. 2017;42(5):e263-e264.
	Ohtahara syndrome is one of the causes of infantile epilepsies, which presents with refractory seizures and characteristic EEG changes.
28709814	FEMALE	Child
	The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.
	Liang JS, Lin LJ, Yang MT, Wang JS, Lu JF. Brain Dev. 2017;39(10):877-881.
	Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome.
26721324	OTHER	Infant, Newborn
	Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
	Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM Jr. Eur J Med Genet. 2016;59(2):70-4.
	Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function.
27072799 (4830060)	FEMALE	Adult
	GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.
	Marce-Grau A, Dalton J, Lopez-Pison J, Garcia-Jimenez MC, Monge-Galindo L, Cuenca-Leon E, Giraldo J, Macaya A. Orphanet J Rare Dis. 2016;11:38.
	De novo heterozygous mutations in the GNAO1 gene, encoding the G945 o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17).
25631041	MALE
	Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
	Ortega-Moreno L, Giraldez BG, Verdu A, Garcia-Campos O, Sanchez-Martin G, Serratosa JM, Guerrero-Lopez R. Neurologia. 2016;31(8):523-7.
	Ohtahara syndrome (OS, OMIM#308350, ORPHA1934) is an early-onset epileptic encephalopathy (EOEE) characterised by spasms, intractable seizures, suppression-burst pattern on the electroencephalogram, and severe psychomotor retardation.
24352161	MIXED_SAMPLE
	De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
	Vaher U, Noukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. J Child Neurol. 2014;29(12):NP202-6.
	Because the clinical phenotype associated with SCN8A mutations has previously been identified only in a few patients with or without epileptic seizures, these data together with our results suggest that mutations in SCN8A can lead to early infantile epileptic encephalopathy with a broad phenotypic spectrum.
24352161	MIXED_SAMPLE
	De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
	Vaher U, Noukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. J Child Neurol. 2014;29(12):NP202-6.
	We used whole-exome sequencing of a parent-offspring trio to identify the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at the age of 17 months because of respiratory illness and identified a de novo heterozygous missense mutation (c.3979A>G; p.Ile1327Val) in SCN8A (voltage-gated sodium-channel type VIII alpha subunit) gene.
24315539	FEMALE	Infant, Newborn
	Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.
	Tso WW, Kwong AK, Fung CW, Wong VC. Pediatr Neurol. 2014;50(2):177-80.
	Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay.
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.
	We describe a patient with Ohtahara syndrome who presented on the first day of life with refractory tonic seizures and a suppression-burst pattern on EEG.