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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 113 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(60.5%)		 22447382
 Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence.
Aypar E, Sert A, Gokmen Z, Aslan E, Odabas D.
Pediatr Cardiol. 2013;34(2):452-4.
Glossoptosis Micrognathia
Differential Diagnosis Echocardiography, Doppler, Color Females Follow-Up Studies Heart Ventricle Homo sapiens Infant, Newborn Isolated Noncompaction of the Ventricular Myocardi... Pierre Robin Syndrome
2
(57.8%)		 22709267
 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N.
Epilepsia. 2012;53(8):1441-9.
Microcephaly Micrognathia
ARX CASK STXBP1
c|SUB|A|1|G rs1057520075 rs1057524935 rs1555977248 rs1555983784 rs1556004104 rs1556013344 rs900079494
Cerebellar Diseases Child, Preschool Epilepsy Females Fluorescent in Situ Hybridization Gene Deletion Homo sapiens Immunoblotting Magnetic Resonance Imaging Male Neuroimaging Oligonucleotide Array Sequence Analysis Real-Time Polymerase Chain Reaction Syndrome
3
(45.7%)		 8214333
 A case of early infantile epileptic encephalopathy (EIEE) with anatomical cerebral asymmetry and myoclonus.
Ogihara M, Kinoue K, Takamiya H, Nemoto S, Miyajima T, Hoshika A, Honda T, Takashima S, Genton P, Dravet C, et al..
Brain Dev. 1993;15(2):133-9.
Myoclonus Hemiatrophy
Brain Electroencephalography Females Homo sapiens Infant Magnetic Resonance Imaging Myoclonic Epilepsy Syndrome X-Ray Computed Tomography
4
(39.0%)		 28815871
 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y.
Am J Med Genet A. 2017;173(10):2680-2689.
Microcephaly
HNRNPU
c|DEL|2270_2271| c|DEL|651_660| c|SUB|C|1714|T c|SUB|G|1089|A p|FS|P|757|R|7 p|SUB|R|572|* p|SUB|W|363|* rs1135401732 rs1135401733 rs1135401734 rs1553282235 rs1553282570 rs1553283037 rs764205447 rs779453109 rs878855133
Child Chromosome Deletion Females Haploinsufficiency Heterogeneous-Nuclear Ribonucleoprotein U Homo sapiens Infant Male Neurodevelopmental Disorders Phenotype
4
(39.0%)		 28721938
 Practical clues for diagnosing WWOX encephalopathy.
Tarta-Arsene O, Barca D, Craiu D, Iliescu C.
Epileptic Disord. 2017;19(3):357-361.
Microcephaly
WWOX
Brain Child, Preschool Electroencephalography Homo sapiens Infant Magnetic Resonance Imaging Male Mutation WW Domain-Containing Oxidoreductase West Syndrome
4
(39.0%)		 27072799
(4830060)
 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.
Progressive microcephaly
GNAO1 TRIO
p|SUB|L|199|P rs587777057
Adult Brain Brain Diseases Exome Females GTP-Binding Protein alpha Subunits, Gi-Go Homo sapiens Magnetic Resonance Imaging Molecular Dynamics Simulation Young Adult
4
(39.0%)		 26917597
(4806221)
 CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG.
Brain. 2016;139(Pt 4):1036-44.
Microcephaly
CCDC88A
c|DEL|2313|T rs879255649
Animals Brain Brain Edema Child Females Homo sapiens Infant Male Mice, Knockout Microfilament Proteins Mus Mutation Neurodegenerative Disorders Optic Atrophy Vesicular Transport Proteins West Syndrome
4
(39.0%)		 26345274
 Severe CNS involvement in WWOX mutations: Description of five new cases.
Tabarki B, AlHashem A, AlShahwan S, Alkuraya FS, Gedela S, Zuccoli G.
Am J Med Genet A. 2015;167A(12):3209-13.
Progressive microcephaly
WWOX
c|SUB|G|606-1|A;RS#:730882215
Exome Females Homo sapiens Homozygote Infant Magnetic Resonance Imaging Male Mutation Neuroimaging Oxidoreductase Phenotype Tumor Suppressor Proteins WW Domain-Containing Oxidoreductase West Syndrome
4
(39.0%)		 24814476
 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.
Microcephaly
KCNQ2 SCN2A SCN8A STXBP1
c|SUB|C|4007|A p|SUB|S|1336|Y
Child, Preschool DNA Mutational Analysis Electroencephalography Father-Child Relations Females Genetic Counseling Homo sapiens Male Mosaicism Mutation NAV1.2 Voltage-Gated Sodium Channel Sibling West Syndrome
4
(39.0%)		 1760211
 [Pedaling automatism in atypical West syndrome: a case report].
Fukumizu M, Kurokawa T, Yoshikawa H, Hanaoka S.
No To Hattatsu. 1991;23(6):617-22.
Microcephaly
Age Factors Automatism Brain Electroencephalography Epilepsy Females Homo sapiens Infant Magnetic Resonance Imaging West Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 53

HPO ID Term Frequency
HP:0001250 Seizures Obligate (100%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002353 EEG abnormality Frequent (79-30%)
HP:0002360 Sleep disturbance Frequent (79-30%)
HP:0002421 Poor head control Frequent (79-30%)
HP:0002521 Hypsarrhythmia Frequent (79-30%)
HP:0008947 Infantile muscular hypotonia Frequent (79-30%)
HP:0010851 EEG with burst suppression Frequent (79-30%)
HP:0000729 Autistic behavior Occasional (29-5%)
HP:0000752 Hyperactivity Occasional (29-5%)
HP:0001257 Spasticity Occasional (29-5%)
HP:0001266 Choreoathetosis Occasional (29-5%)
HP:0001272 Cerebellar atrophy Occasional (29-5%)
HP:0001302 Pachygyria Occasional (29-5%)
HP:0001336 Myoclonus Occasional (29-5%)
HP:0001337 Tremor Occasional (29-5%)
HP:0002069 Generalized tonic-clonic seizures Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0002121 Absence seizure Occasional (29-5%)
HP:0002131 Episodic ataxia Occasional (29-5%)
HP:0002373 Febrile seizures Occasional (29-5%)
HP:0002376 Developmental regression Occasional (29-5%)
HP:0002506 Diffuse cerebral atrophy Occasional (29-5%)
HP:0007204 Diffuse white matter abnormalities Occasional (29-5%)
HP:0010818 Generalized tonic seizures Occasional (29-5%)
HP:0010819 Atonic seizures Occasional (29-5%)
HP:0010850 EEG with spike-wave complexes Occasional (29-5%)
HP:0011169 Generalized clonic seizures Occasional (29-5%)
HP:0011190 Uni- and bilateral multifocal epileptiform discharges Occasional (29-5%)
HP:0012448 Delayed myelination Occasional (29-5%)
HP:0012469 Infantile spasms Occasional (29-5%)
HP:0040168 Focal seizures, afebril Occasional (29-5%)
HP:0100660 Dyskinesia Occasional (29-5%)
HP:0100716 Self-injurious behavior Occasional (29-5%)
HP:0000054 Micropenis Very rare (4-1%)
HP:0000070 Ureterocele Very rare (4-1%)
HP:0000110 Renal dysplasia Very rare (4-1%)
HP:0000175 Cleft palate Very rare (4-1%)
HP:0000252 Microcephaly Very rare (4-1%)
HP:0000340 Sloping forehead Very rare (4-1%)
HP:0000463 Anteverted nares Very rare (4-1%)
HP:0000486 Strabismus Very rare (4-1%)
HP:0000826 Precocious puberty Very rare (4-1%)
HP:0001332 Dystonia Very rare (4-1%)
HP:0001500 Broad finger Very rare (4-1%)
HP:0001508 Failure to thrive Very rare (4-1%)
HP:0001537 Umbilical hernia Very rare (4-1%)
HP:0001629 Ventricular septal defect Very rare (4-1%)
HP:0005280 Depressed nasal bridge Very rare (4-1%)
HP:0009381 Short finger Very rare (4-1%)
HP:0010174 Broad phalanx of the toes Very rare (4-1%)
HP:0012554 Absent thumbnail Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 19

HPO ID Term # of case reports
HP:0001250 Seizures 24
HP:0200134 Epileptic encephalopathy 11
HP:0001298 Encephalopathy 6
HP:0001249 Intellectual disability 5
HP:0001263 Global developmental delay 3
HP:0001336 Myoclonus 2
HP:0025356 Psychomotor retardation 2
HP:0032046 Focal cortical dysplasia 2
HP:0000062 Ambiguous genitalia 1
HP:0001251 Ataxia 1
HP:0001300 Parkinsonism 1
HP:0001321 Cerebellar hypoplasia 1
HP:0001662 Bradycardia 1
HP:0002133 Status epilepticus 1
HP:0002180 Neurodegeneration 1
HP:0004756 Ventricular tachycardia 1
HP:0012032 Lipoma 1
HP:0012447 Abnormal myelination 1
HP:0031491 Continuous spike and waves during slow sleep 1


Causative gene(s) retrieved from Orphanet

    Total: 14

Gene Symbol Gene Name Entrez Gene ID
NEUROD2 neuronal differentiation 2 4761
SCN2A sodium voltage-gated channel alpha subunit 2 6326
CDKL5 cyclin dependent kinase like 5 6792
STXBP1 syntaxin binding protein 1 6812
ARX aristaless related homeobox 170302
CASK calcium/calmodulin dependent serine protein kinase 8573
PNKP polynucleotide kinase 3'-phosphatase 11284
GNAO1 G protein subunit alpha o1 2775
PIGQ phosphatidylinositol glycan anchor biosynthesis class Q 9091
SIK1 salt inducible kinase 1 150094
SLC25A22 solute carrier family 25 member 22 79751
KCNA1 potassium voltage-gated channel subfamily A member 1 3736
TRIM8 tripartite motif containing 8 81603
PIGP phosphatidylinositol glycan anchor biosynthesis class P 51227