Disease #04270 (epilepsy (epilepsy))

Official abbreviation epilepsy
Name epilepsy
OMIM ID -
Inheritance -
Individuals reported having this disease 412
Phenotype entries for this disease 390
Associated with 1 gene EP400
Associated tissues -
Disease features -
Remarks -
Date created 2015-05-14 16:00:06 +02:00 (CEST)
Date last edited 2017-09-07 14:25:59 +02:00 (CEST)


Individuals

412 entries on 5 pages. Showing entries 1 - 100.
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VIP     
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00000038 - PubMed: Bell 2011 - - - - - - - - - epilepsy - ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MTHFR, MYO5A, NHLRC1, SMPD1 ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MYO5A, NHLRC1, PRKAR1A, SMPD1, TMPPE 9 1 Global Variome, with Curator vacancy
00051661 - - - ? - Japan - - - - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00051662 - - - ? - Japan - - - - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00051663 - - - ? - Japan - - - - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00051664 - - - ? - Japan - - - - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00051665 - - - ? - Japan - - - - - epilepsy epilepsy CYP2C9 CYP2C9 1 1 Johan den Dunnen
00074462 - PubMed: Maljevic 2006, Journal: Maljevic 2006 - M no Germany white - - - - epilepsy 18y old male patient with childhood absence epilepsy starting at age 3y. GABRA1 GABRA1 1 1 Bernt Popp
00102728 24534542-Pat2 PubMed: Marques 2014 - M - Portugal - - - - - epilepsy, MRT Macrocephaly (1y); refractory epilepsy with progressive cognitive regression (6y); bilateral strabismus; with normal strength and without muscle complaints (able to run, climb stairs and run) at 21y; brain MRI: white matter changes and occypital agyria. LAMA2 LAMA2 2 1 Jorge Oliveira
00119071 - - 2-generation family, 3 affected (1F, 2M) F no - - - - - - epilepsy photosensitive genetic generalised epilepsy - HCN2 1 1 Christopher Reid
00119072 - - 2-generation family (2F, 1M) F no - - - - - - epilepsy Idiopathic Photosensitive Occipital Epilepsy - HCN2 1 1 Christopher Reid
00119073 - - 2-generation family, 2M affected, 1M variant carrier M no Italy - - - - - epilepsy early onset absence epilepsy - HCN2 1 1 Christopher Reid
00119074 - - 2-generation family, 3 affected F no - - - - - - epilepsy unclassified epilepsy - HCN2 1 3 Christopher Reid
00119075 - - 1M affected M - - - - - - - epilepsy generalized epilepsy - HCN2 1 1 Christopher Reid
00132052 - - - F - Germany - - - - - epilepsy Atypical absence seizures (HP:0007270), Generalized myoclonic seizures (HP:0002123) KCNMA1 KCNMA1 1 1 Qing Kenneth Wang
00132053 - - - F - China - - - - - epilepsy - KCNMA1 KCNMA1 1 1 Qing Kenneth Wang
00132054 - - - F - United States - - - - - epilepsy Absence seizures (HP:0002121), Atonic seizures (HP:0010819), Focal myoclonic seizures (HP:0011166), Focal tonic seizures (HP:0011167) KCNMA1 KCNMA1 1 1 Qing Kenneth Wang
00132055 - - - F - Germany - - - - - epilepsy epileptic encephalopathy (HP:0200134) KCNMA1 KCNMA1 1 1 Qing Kenneth Wang
00148581 - PubMed: Campion D 1995 PubMed: Campion D 1999 PubMed: Campion D 1995 - - - France white 52y07m - - - AD, epilepsy - PSEN1 PSEN1 1 38 Marc Cruts
00149037 - - - - - Greece white 39y - - - AD, epilepsy - PSEN1 PSEN1 1 3 Marc Cruts
00149438 - - - - - - white (Bulgarian) - - - - AD, epilepsy - PSEN1 PSEN1 1 2 Marc Cruts
00149552 - - - - - - - 67y - - - AD, epilepsy - APP APP 1 2 Marc Cruts
00154932 - - - F no Denmark - - - - - epilepsy, ID pregnancy uneventful; moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); severe speech delay (HP:0000750) - CUX2 1 1 Elsebet Østergaard
00163846 IV-1 PubMed: Pagnamenta 2018 DECIPHER ID 265247 M yes - Pakistani - - - - DD, epilepsy, microcephaly - - PIGH 1 2 Philippe Campeau
00163847 IV-2 PubMed: Pagnamenta 2018 - F yes - Pakistani - - - - DD, epilepsy, microcephaly - - PIGH 1 1 Philippe Campeau
00163931 259633 PubMed: Pagnamenta 2017 - F no - White British white - - - - epilepsy - - PIGN 2 1 Philippe Campeau
00163932 - PubMed: Nakagawa et al.2015 - M no Japan - - - - - epilepsy, ID - - PIGN 2 1 Philippe Campeau
00164481 R_1250 - - M no Poland - 09y - - - epilepsy Epileptic encephalopathy (HP:0200134); Abnormal facial shape (HP:0001999) - PPP3CA 1 1 Rafał Płoski
00168053 15502825-Fam PubMed: Simpson 2004 8-generation family, 9 affected (2F, 7M), unaffected carrier parents/relatives F;M yes United States Amish - - - - epilepsy see paper; ..., infantile-onset symptomatic epilepsy syndrome, developmental stagnation, blindness ST3GAL5 ST3GAL5 1 9 Johan den Dunnen
00168065 22990144-FamPatV5/6 PubMed: Fragaki 2013 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes France - - - - - epilepsy see paper; ..., early-onset refractory epilepsy, psychomotor delay, failure to thrive, blindness, deafness ST3GAL5 ST3GAL5 1 2 Johan den Dunnen
00180896 - PubMed: Zweier 2019, Journal: Zweier 2019 - M no United Kingdom (Great Britain) - - - - - epilepsy HP:0001249 - CYFIP2 1 1 Anaïs Begemann
00205855 - - - - - China - - - - - epilepsy - CAMK2A - - 1 Jinliang Li
00205859 - - - - - China - - - - - epilepsy - - SCN3A 1 1 Jinliang Li
00205861 patient 1 - - F - China - - - - - epilepsy - HDAC8 HDAC8 1 1 Jinliang Li
00205862 patient2 - - F no China - - - - - epilepsy - CAMK2A CAMK2A 1 1 Jinliang Li
00205864 patient3 - - F no China - - - - - epilepsy - HIBCH HIBCH 2 1 Jinliang Li
00205865 patient4 - - F - China - - - - - epilepsy - KCNQ5 KCNQ5 1 1 Jinliang Li
00205866 patient5 - - M - China - - - - - epilepsy - KCNQ5 KCNQ5 1 1 Jinliang Li
00205867 patient6 - - M - China - - - - - epilepsy - SCN3A SCN3A 1 1 Jinliang Li
00205868 patient7 - - F no China - - - - - epilepsy - PPP3CA PPP3CA 1 1 Jinliang Li
00205869 patient8 - - F no China - - - - - epilepsy - PACS2 PACS2 1 1 Jinliang Li
00207532 Patient PubMed: Foskett et al., 2018 - F no Mexico Mexican >00y08m - - - epilepsy Infantile spasms, myoclonic seizures, cortical visual impairment, developmental delay, and minor dysmorphic features (Anteverted nares, tented upper lip), pectus excavatum, and mild flexion contractures of all fingers bilaterally. Alkaline phosphatase levels ranged from normal to mildly elevated. No evidence of metabolic bone disease. PIGW PIGW 2 1 Philippe Campeau
00209022 28771251-Pat37 PubMed: Lionel 2018 - M - Canada - - - - - epilepsy epilepsy GRIN2A GRIN2A 1 1 Johan den Dunnen
00209024 28771251-Pat41 PubMed: Lionel 2018 - M - Canada - - - - - epilepsy Epilepsy and global developmental delay STXBP1 STXBP1 1 1 Johan den Dunnen
00218061 - III.3 - F no Poland - - - - - epilepsy Generalised epilepsy Intellectual Disability Gingival Abnormalities Nail Abnormalities ATP6V1B2 ATP6V1B2 1 6 Marie Shaw
00224853 - unpublished - M - - - - - - - epilepsy - TSC1 TSC1 1 1 Rosemary Ekong
00226156 - - - - - China - - - - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226157 - - - - - China - - - - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226158 - - - - - China - - - - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226159 - - - - - China - - - - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226160 - - - - - China - - - - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226161 - - - - - China - - - - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00226162 - - - - - China - - - - - epilepsy - - CSNK2B 1 1 Jinliang Li
00226163 - - - - - China - - - - - epilepsy - CSNK2B CSNK2B 1 1 Jinliang Li
00239139 - - - F - China Chinese 00y04m - - - epilepsy Infantile spasms (HP:0012469); Neurodevelopmental delay (HP:0012758); HECW2 HECW2 1 1 Mengna Zhang
00239140 - - - F no China Chinese 00y10m - - - epilepsy infantile spasms(HP:0012469), Neurodevelopmental delay (HP:0012758), Muscular hypotonia (HP:0001252),Intrauterine growth retardation (HP:0001511) HECW2 HECW2 1 1 Mengna Zhang
00239190 case PubMed: Moore 2001 - F - - - - - - - epilepsy 5y-typical childhood absence epilepsy; 14-15y developed myoclonic seizures and later rare tonic-clonic seizures; EEG typical absences and subsequent persistent bilateral synchronous spike-wave discharges without accompanying clinical signs, last 20 years the EEG normal JRK JRK 1 1 Johan den Dunnen
00239790 - - - M - Argentina - - - - - epilepsy persistent crisis of atipical febrile seizures SCN1A ALDH7A1, SCN1A 2 1 GENBIOMOL - Carla Bidinost
00265870 - PubMed: Nakashima 2020 - F no Japan - - - - - epilepsy Epileptic spasms - CUL3 1 1 Mitsuko Nakashima
00265878 - PubMed: Nakashima 2020 - M no Malaysia - - - - - epilepsy Epileptic spasms - CUL3 1 1 Mitsuko Nakashima
00266658 - - - M - (Italy) - - - - - epilepsy Early severe epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks KCNC2 KCNC2 1 1 Maurizio Elia
00269544 - PubMed: Baulac 2001 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus GABRG2 GABRG2 1 1 Johan den Dunnen
00269545 - PubMed: Shi 2010 - - - - - - - - - epilepsy seizures, generalized tonic-clonic GABRG2 GABRG2 1 1 Johan den Dunnen
00269546 - PubMed: Cantarín-Extremera 2011 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus GABRG2 GABRG2 1 1 Johan den Dunnen
00269547 - PubMed: Hirose 2006 - - - - - - - - - epilepsy myoclonic epilepsy of infancy GABRG2 GABRG2 1 1 Johan den Dunnen
00269548 - Johnston 2010, HG online - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus GABRG2 GABRG2 1 1 Johan den Dunnen
00269549 - PubMed: Wallace 2001 - - - - - - - - - epilepsy epilepsy, childhood absence with febrile seizures GABRG2 GABRG2 1 1 Johan den Dunnen
00269550 - PubMed: Cantarín-Extremera 2011 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus GABRG2 GABRG2 1 1 Johan den Dunnen
00269551 - PubMed: Lachance-Touchette 2011 - - - - - - - - - epilepsy epilepsy, idiopathic generalised GABRG2 GABRG2 1 1 Johan den Dunnen
00269552 - PubMed: Harkin 2002 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus GABRG2 GABRG2 1 1 Johan den Dunnen
00269553 - PubMed: Audenaert 2006 - - - - - - - - - epilepsy febrile seizures GABRG2 GABRG2 1 1 Johan den Dunnen
00269554 - PubMed: Sun 2008 - - - - - - - - - epilepsy generalized epilepsy with febrile seizures plus GABRG2 GABRG2 1 1 Johan den Dunnen
00269555 - PubMed: Kananura 2002 - - - - - - - - - epilepsy epilepsy, childhood absence with febrile seizures GABRG2 GABRG2 1 1 Johan den Dunnen
00270541 105297 - - M ? Germany - - - - - epilepsy, stroke, ischemic, susceptibility to HPOs: Tinnitus; Nausea; Gait ataxia; Vertigo; Vestibular nystagmus, Seizures; Intracranial hemorrhage KCNH2 KCNH2 1 1 Andreas Laner
00270548 108406 - - F - Germany - - - - - epilepsy HPOs: Abnormality of the nervous system; Epileptic encephalopathy SCN5A SCN5A 1 1 Andreas Laner
00271176 108406 - - F ? Germany - - - - - epilepsy HPO: Abnormality of the nervous system; Epileptic encephalopathy SCN5A SCN5A 1 1 Andreas Laner
00274290 - PubMed: Wayhelova 2020, Journal: Wayhelova 2020 2-generation family, 2 affected, unaffected carrier mother M no Czech Republic white >09y - - antiepileptic drug therapy epilepsy biotinidase deficiency, intellectual disability, developmental delay, autistic features, cortical blindness, intractable atonic seizures - BTD, IQSEC2 2 2 Marketa Wayhelova
00274291 brother PubMed: Wayhelova 2020, Journal: Wayhelova 2020 brother of 00274290 M no Czech Republic white >02y - - antiepileptic drug therapy epilepsy biotinidase deficiency not related to epilepsy and neurodevelopmental disorders, intractable seizures, developmental delay, central hypotonia biotinidase deficiency not related to neurodevelopmental disorders - BTD, IQSEC2 2 1 Marketa Wayhelova
00279047 - PubMed: Ekong, 2016 patient examined and does not have any clinical or radiographic findings to support a diagnosis of TSC; variant identified in infantile epilepsy panel test and reported as pathogenic by the diagnostic lab; 2 half siblings tested and variant not found; parents not tested; we cannot exclude the possibility that the variant contributes to the patient's phenotype M - - - - - - - epilepsy epilepsy and intellectual disability TSC2 TSC2 1 1 Rosemary Ekong
00279516 - unpublished - M - - - - - - - epilepsy - TSC2 TSC2 1 1 Rosemary Ekong
00281095 - unpublished infant with multiple seizures; one of the parents with seizures was tested and also has the same variant ? - - - - - - - epilepsy seizures TSC2 TSC2 1 2 Rosemary Ekong
00281298 - unpublished patient reported to have some irregular hypopigmentation that are not typical hypopigmented macules; MRI of brain normal; no FH of seizures or TSC M - - - - - - - epilepsy seizures TSC2 TSC2 1 1 Rosemary Ekong
00281299 - unpublished patient has seizures and a reported likely pathogenic variant in SCN2A (not specified); TSC2 c.1244C>T also seen in one parent who is apparently asymptomatic F - - - - - - - epilepsy seizures TSC2 TSC2 1 2 Rosemary Ekong
00281300 - unpublished patient has seizures and developmental delay; no family information ? - - - - - - - epilepsy seizures, developmental delay TSC2 TSC2 1 1 Rosemary Ekong
00281357 - unpublished parents not tested M - - - - - - - epilepsy - TSC2 TSC2 1 1 Rosemary Ekong
00289331 FamPatII2 PubMed: Muona 2016 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F - Finland - - - - - epilepsy see paper; ..., rapidly progressing cerebral atrophy, intractable seizures, and intellectual disability ADAM22 ADAM22 2 1 Johan den Dunnen
00295737 109812 - - M yes Turkey - - - - - autism, DD, epilepsy Autism, Intellectual disability, Generalized-onset seizure EZR EZR 1 1 Andreas Laner
00295764 - - - M yes Morocco - - - - - epilepsy epileptic spasms right frontal seizure truncal hypotonia PDE2A PDE2A 1 1 Gabrielle Rudolf
00296271 Fam1PatII1 PubMed: Hamanaka 2020, Journal: Hamanaka 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - epilepsy rolling over-12m,; meaningful words 24-36m; seizure, developmental delay; walk-1y5m; severe intellectual disability (IQ=25 17y); speech few words; no microcephaly; 6y-generalized tonic-clonic seizures, 9y-absence seizure, 11y-atonic seizure; seizure therapy intractable; regression motor skill and dysarthria; ataxia; intention tremor; rigidity; myoclonus; spasticity; increased deep tendon reflex upper and lower limbs; pathogenic reflex Rossolimo sign positive, Mendel-Bechterew sign positive; no dysmorphic features; wheelchair-bound; MRI brain normal; EEG abnormal discharge in right hemisphere (6 years), burst of diffuse irregular spikes and slow waves (9 years), diffuse spike and slow waves in frontal, parietal and temporal regions (14 years); somatosensory evoked potential prolonged N20 latency and high amplitude of P24-N33 SEMA6B SEMA6B 1 1 Johan den Dunnen
00296272 Fam2PatII1 PubMed: Hamanaka 2020, Journal: Hamanaka 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - epilepsy walking without support-28m; seizure; walk-2y4m; severe intellectual disability (IQ=25 12y); speech few words; microcephaly (−2.0 SD); 11m-generalized tonic-clonic seizures, 5y-loss of consciousness with abnormal eye movement, 10y-complex partial seizure, 10y-atonic seizure,; seizure therapy intractable; regression motor skill; ataxia; intention tremor; rigidity; myoclonus; spasticity; increased deep tendon reflex upper and lower limbs; no pathogenic reflex; no dysmorphic features; wheelchair-bound; MRI brain mild cerebellar atrophy; EEG diffuse slow wave with 2–3 Hz and spike-and-wave in bilateral frontal region (3 years and 4 years), diffuse theta waves with 4–5 Hz and spike-and-wave burst with 2–3 Hz (9 years), multifocal spikes in left parietal region and bilateral frontal regions (12 years), multispikes in left occipital region (13 years), slow waves at baselines (23 years); giant somatosensory evoked potential; systemic lupus erythematosus SEMA6B SEMA6B 1 1 Johan den Dunnen
00296273 Fam3PatII4 PubMed: Hamanaka 2020, Journal: Hamanaka 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Israel - - - - - epilepsy walking without support-24m; seizure; walk-2y; severe intellectual disability; no speech; microcephaly (−2.5 SD); 2y-absence seizure ; seizure therapy responsive; regression motor and verbal skills; ataxia; intention tremor; no dysmorphic features; wheelchair-bound; MRI brain small vermis; EEG abnormal background activity (1 year), slow abnormal sleep features with paucity of sleep spindles (13 years) SEMA6B SEMA6B 1 1 Johan den Dunnen
00296274 Fam4PatII4 PubMed: Hamanaka 2020, Journal: Hamanaka 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Malaysia - - - - - epilepsy eye pursuit-5m, walking without support-24m, meaningful words-30m; seizure and developmental delay; walk-2y; severe intellectual disability; speech few words; microcephaly (2nd percentile); 4y-atonic seizure; seizure therapy intractable, but improved by clobazam and sulthiame (responsive); regression; ataxia; intention tremor; myoclonus; no increased deep tendon reflex; no pathogenic reflex; no dysmorphic features; walking with support; MRI brain normal; EEG focal bifrontal epileptiform discharges accentuated during sleep (4 years), frequent frontocentral discharges during awake state (5 years), frequent intermittent slow spikes in right posterior region (11 years) SEMA6B SEMA6B 1 1 Johan den Dunnen
00303557 Fam1Pat1 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 18m-sit; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; upslanting palpebral fissures, pes-cavus; tone normal; power reduced; ataxic gait; reflexes reduced NARS NARS 1 1 Stephanie Efthymiou
00303558 Fam7Pat7 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - epilepsy see paper; ..., no microcephaly; global developmental delay; 12m-sit; 2y3m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; large ears, long slender fingers; tone reduced; reflexes increased NARS NARS 1 1 Stephanie Efthymiou
00303559 Fam8Pat8 PubMed: Manole 2020 2-generation family, 1 affected, unaffected non-carrier parents M no United States Germany-Ireland;England-native American;Russia-Poland - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 8m-sit; 2y11m-walk; language severely delayed; severe intellectual disability; myoclonic/partial seizures; ataxia; imaging no anomalies detected; broad forehead; tone increased; normal power; ataxic gait; reflexes increased; stereotypies NARS NARS 1 1 Stephanie Efthymiou
00303561 Fam16Pat24 PubMed: Manole 2020 2-generation family, affected sister/brother, unaffected heterozygous parents M no Kosovo - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; not sitting; not waking; language notdelayed; profound intellectual disability; myoclonic/generalised tonic clonic seizures; delayed myelination; no dysmorphic features; tone increased; power reduced; reflexes reduced NARS NARS 1 2 Stephanie Efthymiou
00303562 Fam17Pat26 PubMed: Manole 2020 4-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents F yes Libya - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; NARS NARS 1 3 Stephanie Efthymiou
00303563 Fam18Pat27 PubMed: Manole 2020 2-generation family, affected sisters, unaffected heterozygous parents F no Germany - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; no dysmorphic features; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes reduced NARS NARS 2 2 Stephanie Efthymiou
00303564 Fam19Pat29 PubMed: Manole 2020 3-generation family, affected brother/sister, unaffected heterozygous parents M no Turkey - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; thickening of gyri; no dysmorphic features NARS NARS 2 2 Stephanie Efthymiou
00303565 Fam20Pat31 PubMed: Manole 2020 2-generation family, 1 affected, unaffected heterozygous parents F no Canada - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 6y10m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; ataxia; thin corpus callosum, decreased white matter; hypotelorism; tone reduced; normal power; sensation normal; ataxic gait; reflexes normal; hip dysplasia NARS NARS 2 1 Stephanie Efthymiou
00303566 Fam21Pat32 PubMed: Manole 2020 2-generation family, 1 affected, unaffected heterozygous parents M no United States - - - - - epilepsy see paper; ..., microcephaly; global developmental delay; 10m-sit; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; ataxia; arachnoid cyst; no dysmorphic features; tone increased; normal power; sensation normal; ataxic gait; reflexes increased NARS NARS 2 1 Stephanie Efthymiou
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