Disease #00841 (EIEE (encephalopathy, epileptic, early infantile (EIEE)))

Official abbreviation EIEE
Name encephalopathy, epileptic, early infantile (EIEE)
OMIM ID -
Inheritance -
Individuals reported having this disease 156
Phenotype entries for this disease 159
Associated with 6 genes CELSR3, CPLX1, HNRNPU, ITPA, PHACTR1, RHOBTB2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2015-02-20 16:58:56 +01:00 (CET)


Individuals

156 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00032570 - PubMed: Depienne 2009 Fam6: 3-generation family, 3 affected females F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 3 Christel Depienne
00032571 - - - F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Christel Depienne
00032572 - - Fam6: 6-generation family, 23 affected females F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 23 Johan den Dunnen
00032576 - - inheritance unknown F - - - - - - - EIEE epilepsy, focal; MR PCDH19 PCDH19 1 1 Johan den Dunnen
00032578 - - - F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032579 - PubMed: Scheffer 2008 Fam4: 4-generation family, 7 affected females F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 7 Johan den Dunnen
00032581 - - - F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Johan den Dunnen
00032582 - - - F - - - - - - - EIEE epilepsy, focal; MR PCDH19 PCDH19 1 1 Johan den Dunnen
00032583 - - - F - - - - - - - EIEE epilepsy, focal; MR PCDH19 PCDH19 1 1 Johan den Dunnen
00032584 - - Fam5: 5-generation family, 12 affected females F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR); patIV.2 multiple seizures first year of lif, severe learning disabilities, no speech, behavioral disturbances PCDH19 PCDH19 1 12 Johan den Dunnen
00032586 - - inheritance unknown F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032587 - PubMed: Depienne 2009 Fam7: 2-generation family, affected daugther, parents not carrier F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032588 - - inheritance unknown (not in the mother), familial, unusual X-linked transmission with male sparing F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Christel Depienne
00032589 - - - F - - - - - - - EIEE epilepsy, focal PCDH19 PCDH19 1 1 Christel Depienne
00032591 - - - F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Johan den Dunnen
00032594 - - - F - - - - - - - EIEE epilepsy, focal; MR PCDH19 PCDH19 1 1 Johan den Dunnen
00032595 - - - F - - - - - - - EIEE epilepsy, focal; MR PCDH19 PCDH19 1 1 Johan den Dunnen
00032596 - - - F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 2 1 Johan den Dunnen
00032597 - - - F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Johan den Dunnen
00032598 - - monozygotic twins F - - - - - - - EIEE Dravet syndrome; epilepsy, generalized; seizures, focal and secondary generalization; EFMR PCDH19 PCDH19 2 2 Johan den Dunnen
00032600 - - maternal inheritance F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Johan den Dunnen
00032601 - - mosaic mother F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Johan den Dunnen
00032602 - PubMed: Depienne 2009 Fam10: 2-generation family, affected daugther, parents not carrier F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032603 - PubMed: Depienne 2009 Fam11: 2-generation family, affected daugther, parents not carrier F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032604 - - inheritance unknown F - - - - - - - EIEE epilepsy, generalized; MR PCDH19 PCDH19 1 1 Johan den Dunnen
00032607 - - - F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032609 - - - F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032610 - - - F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Johan den Dunnen
00032611 - - - F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Johan den Dunnen
00032612 - - paternal inheritance F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Johan den Dunnen
00032614 - PubMed: Scheffer 2008 Fam1: 4-generation family, 10 affected females F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 10 Johan den Dunnen
00032616 - PubMed: Depienne 2009 Fam12: 2-generation family, affected daugther, paternal inheritance F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032617 - - - F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Johan den Dunnen
00032618 - - sib pairs (females), paternal inheritance F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032619 - - inheritance unknown F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032620 - - maternal inheritance (mother asymptomatic) F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032621 - - maternal inheritance (mother asymptomatic) F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032624 - - inheritance unknown F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032625 - PubMed: Depienne 2009 Fam8: 2-generation family, 2 affected sisters, paternal inheritance F - - - - - - - EIEE Dravet syndrome, adolescence-onset idiopathic epilepsy PCDH19 PCDH19 1 2 Christel Depienne
00032626 - - paternal inheritance F - - - - - - - EIEE epilepsy, focal, no mental retardation PCDH19 PCDH19 1 1 Christel Depienne
00032630 - PubMed: Depienne 2009 Fam9: 2-generation family, affected daugther, mother not carrier, father untested F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032631 - - maternal inheritance (mother asymptomatic) F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032635 - - maternal inheritance (mother with FS) F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032636 - - mosaic mother F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Johan den Dunnen
00032638 - - - F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Johan den Dunnen
00032639 - - - F - - - - - - - EIEE epilepsy, focal; MR PCDH19 PCDH19 2 1 Johan den Dunnen
00032640 - - paternal inheritance F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Johan den Dunnen
00032641 - PubMed: Depienne 2009 Fam2: 2-generation family, 2 affected sisters, paternal inheritance F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 2 Christel Depienne
00032643 - PubMed: Scheffer 2008 Fam3: 6-generation family, 6 affected females F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 6 Johan den Dunnen
00032644 - PubMed: Scheffer 2008 Fam2: 5-generation family, 6 affected females F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 6 Johan den Dunnen
00032648 - PubMed: Depienne 2009 Fam3: 2-generation family, isolated female patient, 2 non-carrier twin sisters with cognitive delay or impairment F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032649 - - inheritance unknown F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032650 - - inheritance unknown (not in the mother), familial, unusual X-linked transmission with male sparing F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Christel Depienne
00032651 - - - F - - - - - - - EIEE epilepsy and mental retardation, female restricted (EFMR) PCDH19 PCDH19 1 1 Johan den Dunnen
00032653 - PubMed: Depienne 2009 Fam4: 3-generation family, 4 affected females F - - - - - - - EIEE Dravet syndrome; 3/4 females adolescence-onset idiopathic epilepsy PCDH19 PCDH19 1 4 Christel Depienne
00032654 - PubMed: Depienne 2009 Fam5: 2-generation family, affected daugther, parents not carrier F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032655 - PubMed: Depienne 2009 Fam5: 2-generation family, affected daugther, parents not carrier F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032657 - - - F - - - - - - - EIEE Dravet syndrome; epilepsy, focal PCDH19 PCDH19 1 1 Christel Depienne
00032659 - PubMed: Depienne 2009 Fam1: 2-generation family, affected male, parents non-carrier M - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032660 - - - F - - - - - - - EIEE Dravet syndrome PCDH19 PCDH19 1 1 Christel Depienne
00032661 - - inheritance unknown F - - - - - - - EIEE Dravet syndrome; epilepsy, focal PCDH19 PCDH19 1 1 Christel Depienne
00032692 - - Fam7: 3-generation family, 2 affected females F - - - - - - - EIEE epilepsy; autism spectrum disorder; sisters resp. infantile seizures/Aspergerís syndrome and epilepsy/mild intellectual disability PCDH19 PCDH19 1 1 Johan den Dunnen
00032700 - PubMed: Depienne 2009 Fam12: unaffected carrier father M - - - - - - - EIEE see paper: .. PCDH19 PCDH19 1 1 Christel Depienne
00032701 - PubMed: Depienne 2009 Fam8: unaffected carrier father M - - - - - - - EIEE see paper: .. PCDH19 PCDH19 1 1 Christel Depienne
00032703 - PubMed: Depienne 2009 Fam5: 2-generation family, unaffected father F - - - - - - - EIEE see paper: .. PCDH19 PCDH19 1 1 Christel Depienne
00032707 - PubMed: Depienne 2009 Fam2: unaffected carrier father M - - - - - - - EIEE see paper: .. PCDH19 PCDH19 1 1 Christel Depienne
00032708 - PubMed: Depienne 2009 Fam6: 3-generation family, 2 unaffected carrier males M - - - - - - - EIEE see paper: .. PCDH19 PCDH19 1 2 Christel Depienne
00038515 - ASHG2014-307, PubMed: Nambot 2016, Journal: Nambot 2016 - F no France white - - - - ?, EIEE, NPS facial dysmorphism including a round face, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, telecanthus, strabismus, dysplastic and low-set ears, bulbous nose, small mouth, thin upper lip, prominent cheeks, and a square chin Growth delay (at age 2 years: weight 3rd centile, length -4 SD and OFC -0.5 SD), Flexion and clonic spasms of the upper limbs with eye rolling, loss of consciousness and hypotonia in the post-critical phase. show. Disorganized vigil and sleep pattern with suspect bitemporal pattern on the EEG ., Nail dysplasia, bilateral agenesis of the thumbnails, instability of patella, hypoplastic patellae, dislocation of the left patella, radio-ulnar synostosis, elbow flexion, abduction of the hips, bilateral equinovarus, bilateral clinodactyly of the fifth finger DNM1, ENG, LMX1B, LRSAM1, SET, SPTAN1, STXBP1, TOR1A - 1 1 Sophie Nambot
00038516 - ASHG2014-307, PubMed: Nambot 2016, Journal: Nambot 2016 - F no France white - - - - ?, EIEE, HHT, NPS bilateral bowed radial diaphyses with absent radial cupules, bilateral coxa valga, fingernail dysplasia, thoraco-lumbar scoliosis with double convexity, leg asymmetry, right foot valgus,instability of the patella, normal renal function, facial dysmorphism including a round face, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, telecanthus, strabismus, dysplastic and low-set ears, bulbous nose, small mouth, thin upper lip, prominent cheeks, and a square chin Growth delay (at age 2 years: weight 3rd centile, length -4 SD and OFC -0.5 SD), hereditary hemorrhagic telangiectasia with recurrent but sporadic epistaxis, tonic-clonic seizures, anterior slow spikes and waves on the EEG, vermis atrophia, central myelination delay, severe psychomotor delay and intellectual disability, cerebellar syndrome, behavioral troubles ENG, LMX1B, LRSAM1, STXBP1 - 1 1 Sophie Nambot
00038520 - ASHG2014-307, PubMed: Nambot 2016, Journal: Nambot 2016 - F no France white - - - - ?, EIEE, HHT, NPS facial dysmorphism included brachycephaly, round face, prominent metopic ridge, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, enophtalmia, bulbous nose, small mouth, thin lips, prominent cheeks and square chin Growth delay (at 9.5 years: weight 25th centile, length -2.5 SD, OFC -4 SD), hereditary hemorrhagic telangiectasia with frequent epistaxis at 12y, scoliosis, equinovarus feet, hypoplastic patella, limited elbow extension, hypoplastic nails predominantly affecting the thumbs, no renal disorder, West syndrome with infantile spams and hypsarrhythmia, poly spikes and disorganized pattern on the EEG, cortico-cortical atrophy on the MRI DNM1, ENG, LMX1B, LRSAM1, SPTAN1, STXBP1 - 1 1 Sophie Nambot
00038521 - ASHG2014-307, PubMed: Nambot 2016, Journal: Nambot 2016 - M no France white - - - - ?, EIEE, NPS absences, Diffuses spikes waves, slow wakefulness pattern, White matter, posterior U fibers and splenium lesions, myelinisation delay of the anterior arms of the intern capsules., flexus adductus thumbs, bent hands with overlapping fingers, limited joint mobility especially at elbows and knees, left equinovarus, talus of the right foot, short and stocky foot, absent patella, bilateral agenesis of the thumb nails, dysplasia of the other fingernails, thoracic kyphosis, Hereditary hemorrhagic telangiectasia type 1 HHT1 (OMIM number #187300) with cutaneous telangiectasia Facial dysmorphism included asymmetric plagiocephaly, round face, high hairline at the temples, horizontal palpebral fissures, strabismus, low-set ears, wide saddle nose, bulbous nose, convex philtrum, thin lips, prominent cheeks, square chin, and a short, webbed neck Single transverse palmar crease, Dorso-lumbar hairy spot Growth delay (at 8y: weight< 3rd centile, length<<-3 SD, OFC<<-3 SD) Genital abnormalities: micropenis, hypoplastic scrotum, testicular ectopia DNM1, ENG, LMX1B, LRSAM1, SET, SPTAN1, STXBP1 - 1 1 Sophie Nambot
00054867 Pat4 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - EIEE ataxia, ID, spasticity, epilepsy SCN8A SCN8A 1 1 Erik-Jan Kamsteeg
00072245 272369171-Fam1PatII1 PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII1 F yes - Saudi Arabia - - - - EIEE regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), generalized tonicclonic seizures (HP:0002069), spasticity (HP:0001257), impaired volitional movement (HP:?) FRRS1L FRRS1L 1 1 Jamie Zeegers
00072246 - PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII2 F yes - Saudi Arabia 16y - - - EIEE regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), hemiclonic seizures (HP:0006813), generalized tonicclonic seizures (HP:0002069), spasticity (HP:0001257), impaired volitional movement (HP:?) FRRS1L FRRS1L 1 1 Jamie Zeegers
00072247 272369171-Fam1PatII3 PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII3 M yes - Saudi Arabia - - - - EIEE regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), hemiclonic seizures (HP:0006813), spasticity (HP:0001257), impaired volitional movement (HP:?) FRRS1L FRRS1L 1 1 Jamie Zeegers
00072248 272369171-Fam1PatII4 PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII4 M yes Saudi Arabia - - - - - EIEE regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), hemiclonic seizures (HP:0006813), generalized seizures (HP:0002197), spasticity (HP:0001257), impaired volitional movement (HP:?) FRRS1L FRRS1L 1 1 Jamie Zeegers
00072249 - PubMed: Madeo 2016, Journal: Madeo 2016 Family, 5-affected siblings, PatII5 M yes Saudi Arabia - - - - - EIEE no regression (-HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), hemiclonic seizures (HP:0006813), no neuromotor impairment (-HP:?) FRRS1L FRRS1L 1 1 Jamie Zeegers
00072250 272369172-Fam2PatII1 PubMed: Madeo 2016, Journal: Madeo 2016 Only child with healthy parents F no - European, mixed - - - - EIEE no regression (-HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), ballism (HP:0100248), multifocal (HP:0030651), intractable (HP:?), hypotonia (HP:0001252), impaired volitional movement (HP:?) FRRS1L FRRS1L 1 1 Jamie Zeegers
00072251 272369173-Fam3PatII1 PubMed: Madeo 2016, Journal: Madeo 2016 Only child with healthy parents F no - Puerto Rican - - - - EIEE regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), cogwheel rigidity (HP:0002396), juvenile spasms evolved to LennoxGastaut syndrome (HP:?), hypotonia (HP:0001252), impaired volitional movement (HP:?), horizontal nystagmus (HP:0000666), vertical nystagmus (HP:0010544) FRRS1L FRRS1L 1 1 Jamie Zeegers
00072252 272369174Fam4PatII2 PubMed: Madeo 2016, Journal: Madeo 2016 Unaffected sister, complicated pregnancy by gestational diabetes, was born at term by caesarean section F yes Morocco Morrocan - - - - EIEE regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), myoclonus (HP:0001336), multifocal (HP:0030651), clonic (HP:?), hypotonia (HP:0001252), impaired volitional movement (HP:?) FRRS1L FRRS1L 1 1 Jamie Zeegers
00100436 - - - F no Israel Jewish-Ashkenazi - - - - EIEE severe early infantile encephalopathy (global) hyperkinetic stereotypic movements "oculogyric like" eye movements GRIN1 GRIN1 1 1 Ronen Spiegel
00176996 73214 - - F no Italy - - - - - EIEE - - KCNQ2 1 1 Anaïs Begemann
00176997 70757 - - F no - - - - - - EIEE HP:0000160 HP:0001252 HP:0002078 HP:0002313 HP:0000565 - AP4S1, FKTN, RP1L1 3 1 Anaïs Begemann
00180891 - PubMed: Zweier 2019, Journal: Zweier 2019 - F no United States - - - - - EIEE - - CYFIP2 1 1 Anaïs Begemann
00180892 - PubMed: Zweier 2019, Journal: Zweier 2019 - M no United States - - - - - EIEE - - CYFIP2 1 1 Anaïs Begemann
00207516 Decipher ID 271747 PubMed: Low et al., 2018 17 year old man (only child) with infantile epilepsy and developmental delay who has a maternally inherited missense mutation in PIGA M no - - >17y - - Anti-epileptic drugs, ketogenic diet, vagal nerve stimulator (VNS) EIEE Epilepsy, focal seizures with hypertonicity which evolved during childhood to include atypical absence seizures, tonic seizures and atonic (drop) attacks. Choreoathetoid movements. Blepharitis. Vision and hearing are normal but speech is absent. Global DD. No congenital malformations such as cleft palate or congenital heart disease. PIGA PIGA 1 1 Philippe Campeau
00207517 Patient_32 PubMed: Trump et al., 2016 Mutation found in a gene panel M - - - - - - - EIEE Seizures PIGA PIGA 1 1 Philippe Campeau
00228773 - - - ? no - - - - - - EIEE - - KCNB1 1 1 Giulia Barcia
00229787 Individual 1 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment carbamazepine from 3.5 years (responding, no seizures from the age of >4y) EIEE does not walk; speaks few short words; comprehension severely limited; no regression; severe DD or ID; 2m-onset seizures; no MRI anomalies; truncal hypotonia; hypertonia lower limbs; paroxysmal movement disorder; no stereotypies; limited interaction, easy smiling and laughing; face Pitt-Hopkins-like; 6-7m-transient strabismus, mild constipation RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229788 Individual 2 PubMed: Straub 2018 - M - - - - - - antiepileptic treatment neonatally phenobarbital, then carbamazepine (good for seizures, partial for dystonic attacks) EIEE 2.5y-does not walk ; no speech; comprehension limited; no regression; severe DD or ID; 4d-onset seizures (generalized); delayed myelinationMRI ; hypotonia; choreatic, dystonic, paroxysmal dyskinetic attacks; no stereotypies; no behavioral anomalies ; low nasal bridge, epicanthal folds RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229789 Individual 3 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment divalproex sodium, topiramate, zonisamide ketogenic diet, lacosamide, clobazam, phenobarbital, levetiracetam (drug resistance) EIEE does not walk; no speech; comprehension turns to voice only; 6m-regression; profound DD or ID; 6m-onset seizures (status epilepticus); MRI enlarged ventricles, prominent cortical sulci, thin corpus callosum; hypotonia; dystonic movement disorder; no stereotypies; no behavioral anomalies; hirsute long eyelashes, micrognathia, large pinnae; 3y-left hemiplegia after status epilepticus RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229790 Individual 4 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment phenobarbital, levetiracetam, clonazepam, memantine (4y-no seizures, then refractory including status epilepticus) EIEE does not walk; no speech; comprehension limited; regression after seizures; severe DD or ID; 10w-onset seizures (focal, sec. generalized; later status epilepticus); MRI thin corpus callosum, cerebellar hypoplasia, prominent opercula, later cortical atrophy; truncal hypotonia; hypertonia limbs; no movement disorder; stereotypic hand movements; no behavioral anomalies ; sparse eyebrows, deep-set eyes, depressed nasal root, slightly low insertion of columella; hemiparesis after status epilepticus RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229791 Individual 5 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment valproic acid, pyridoxine (responding, response to pyridoxine (two seizures per year)) EIEE walks with support; no speech; no comprehension ; regression; severe DD or ID (IQ <30); 4w-onset seizures (2x status epilepticus); MRI secondarily acute diffusion and white-matter abnormalities, atrophy; hypotonia; movement disorder; no stereotypies; pleasant behavior; full lower lip, flat maxillae; 14y-acute onset of hemiparesis during febrile short-lasting seizure RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229792 Individual 6 PubMed: Straub 2018 - F - - - - - - antiepileptic treatment carbamazepine (previously lamotrigine, topiramate, phenobarbital) (responding) EIEE walks short distances; no speech; comprehension severely limited; 4m-possible regression; severe DD or ID; 4m-onset seizures; no MRI anomalies; hypotonia; no hypertonia; dystonic movement disorder; stereotypic repetitive behaviors; noise sensitivity, self-harm (exacerbated by anxiety); deep-set eyes, epicanthal folds, low anterior hairline, thick arched eyebrows, broad nasal tip RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229793 Individual 7 PubMed: Straub 2018 - M - - - - - - antiepileptic treatment levetiracetam (responding) EIEE 5y-walks few steps; no speech; comprehension severely limited; no regression; severe DD or ID; 4m-onset seizures (complex partial, generalized tonic clonic); no MRI anomalies; truncal hypotonia; hypertonia limbs; paroxysmal, dystonic-athetoid attacks; no stereotypies; behavioral anomalies; dolichocephaly, wide-spaced teeth; hyperreflexia, mild oculomotor apraxia, insomnia, constipation RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229794 Individual 8 PubMed: Straub 2018 - M - - - - - - antiepileptic treatment levetiracetam (responding) EIEE 3y-walks; speaks few short words; comprehension good; 3y-regression; moderate DD or ID; 3y-onset seizures (focal status); MRI right hemispheric swelling after left hemiplegia and focal seizures; axial hypotonia; hypertonia mild left spastic hemiparesis; paroxysmal dystonic attacks; no stereotypies; no behavioral anomalies ; slightly smooth philtrum; left hemiplegia, bilateral fifth-finger clinodactyly RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229795 Individual 9 PubMed: Straub 2018 - M - - - - - - antiepileptic treatment levetiracetam (responding), no seizures from the age of >9m) EIEE does not walk; no speech; comprehension very limited; 4m-regression stagnation; severe DD or ID; 9m-onset seizures (status epilepticus); no MRI anomalies; truncal hypotonia; hypertonia lower limbs; chorea-like movement disorder (limbs); stereotypic hands in mouth; intense stare, uncontrollable laughter, bruxism, pleasant behavior; large ears, thin upper lip, slightly upturned nose RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00229796 Individual 10 PubMed: Straub 2018 - F - - - - - - - EIEE 1.5y-walks; speaks rare two-word combination; comprehension good; no regression; severe DD or ID; 5.5m-onset seizures (febrile), >6y-no febrile seizures; no MRI anomalies; no hypotonia; no hypertonia; no movement disorder; no stereotypies; autistic, biting, head banging; long philtrum RHOBTB2 RHOBTB2 1 1 Johan den Dunnen
00269477 - PubMed: Minardi 2020 - - - Italy - - - - - EIEE Epileptic Encephalopathy (HP:0200134) - DYNC1H1 1 1 Francesca Bisulli
00269488 - PubMed: Minardi 2020 - F no Italy - - - - - EIEE Epileptic Encephalopaty (HP:0200134) - SMC1A 1 1 Francesca Bisulli
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.