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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-88 Sentence denotes Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
TextSentencer_T2 89-93 Sentence denotes AIM:
TextSentencer_T3 94-304 Sentence denotes Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene.
TextSentencer_T4 305-516 Sentence denotes Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.
TextSentencer_T5 517-524 Sentence denotes METHOD:
TextSentencer_T6 525-740 Sentence denotes We conducted a retrospective review of the detailed neurological and neuroradiological features of nine children (four females, five males; age range at last examination 6-20y) with genetically proven EAST syndrome.
TextSentencer_T7 741-749 Sentence denotes RESULTS:
TextSentencer_T8 750-811 Sentence denotes All children presented with tonic-clonic seizures in infancy.
TextSentencer_T9 812-882 Sentence denotes Later, non-progressive, cerebellar ataxia and hearing loss were noted.
TextSentencer_T10 883-1019 Sentence denotes Whilst seizures mostly responded well to treatment, ataxia proved to be the most debilitating feature, with three patients non-ambulant.
TextSentencer_T11 1020-1143 Sentence denotes All available magnetic resonance imaging (MRI) revealed subtle symmetrical signal changes in the cerebellar dentate nuclei.
TextSentencer_T12 1144-1256 Sentence denotes Moreover, four patients had a small corpus callosum and brainstem hypoplasia, and three had a small spinal cord.
TextSentencer_T13 1257-1423 Sentence denotes Regional quantitative volumetric analysis of the images confirmed the corpus callosum and brainstem hypoplasia and showed further patterns of variation from the norm.
TextSentencer_T14 1424-1439 Sentence denotes INTERPRETATION:
TextSentencer_T15 1440-1559 Sentence denotes The neurological features of EAST syndrome appear to be non-progressive, which is important for prognostic counselling.
TextSentencer_T16 1560-1662 Sentence denotes The spectrum of EAST syndrome includes consistent abnormalities on brain MRI, which may aid diagnosis.
TextSentencer_T17 1663-1764 Sentence denotes Further longitudinal documentation is required to determine the true natural history of the disorder.
T1 0-88 Sentence denotes Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
T2 89-93 Sentence denotes AIM:
T3 94-304 Sentence denotes Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene.
T4 305-516 Sentence denotes Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.
T5 517-524 Sentence denotes METHOD:
T6 525-740 Sentence denotes We conducted a retrospective review of the detailed neurological and neuroradiological features of nine children (four females, five males; age range at last examination 6-20y) with genetically proven EAST syndrome.
T7 741-749 Sentence denotes RESULTS:
T8 750-811 Sentence denotes All children presented with tonic-clonic seizures in infancy.
T9 812-882 Sentence denotes Later, non-progressive, cerebellar ataxia and hearing loss were noted.
T10 883-1019 Sentence denotes Whilst seizures mostly responded well to treatment, ataxia proved to be the most debilitating feature, with three patients non-ambulant.
T11 1020-1143 Sentence denotes All available magnetic resonance imaging (MRI) revealed subtle symmetrical signal changes in the cerebellar dentate nuclei.
T12 1144-1256 Sentence denotes Moreover, four patients had a small corpus callosum and brainstem hypoplasia, and three had a small spinal cord.
T13 1257-1423 Sentence denotes Regional quantitative volumetric analysis of the images confirmed the corpus callosum and brainstem hypoplasia and showed further patterns of variation from the norm.
T14 1424-1439 Sentence denotes INTERPRETATION:
T15 1440-1559 Sentence denotes The neurological features of EAST syndrome appear to be non-progressive, which is important for prognostic counselling.
T16 1560-1662 Sentence denotes The spectrum of EAST syndrome includes consistent abnormalities on brain MRI, which may aid diagnosis.
T17 1663-1764 Sentence denotes Further longitudinal documentation is required to determine the true natural history of the disorder.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 292-298 gene:3766 denotes KCNJ10
T1 175-232 disease:C2748572 denotes epilepsy, ataxia, sensorineural deafness, and tubulopathy
T2 292-298 gene:3766 denotes KCNJ10
T3 234-247 disease:C2748572 denotes EAST syndrome
R1 T0 T1 associated_with KCNJ10,"epilepsy, ataxia, sensorineural deafness, and tubulopathy"
R2 T2 T3 associated_with KCNJ10,EAST syndrome

Allie

Id Subject Object Predicate Lexical cue
SS1_23924083_10_0 1034-1060 expanded denotes magnetic resonance imaging
SS2_23924083_10_0 1062-1065 abbr denotes MRI
AE1_23924083_10_0 SS1_23924083_10_0 SS2_23924083_10_0 abbreviatedTo magnetic resonance imaging,MRI

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 185-191 HP_0001251 denotes ataxia
T2 193-215 HP_0000407 denotes sensorineural deafness
T3 207-215 HP_0000365 denotes deafness

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23924083-1#198#204#gene3766 292-298 gene3766 denotes KCNJ10
23924083-1#81#138#diseaseC2748572 175-232 diseaseC2748572 denotes epilepsy, ataxia, sensorineural deafness, and tubulopathy
23924083-1#140#153#diseaseC2748572 234-247 diseaseC2748572 denotes EAST syndrome
198#204#gene376681#138#diseaseC2748572 23924083-1#198#204#gene3766 23924083-1#81#138#diseaseC2748572 associated_with KCNJ10,"epilepsy, ataxia, sensorineural deafness, and tubulopathy"
198#204#gene3766140#153#diseaseC2748572 23924083-1#198#204#gene3766 23924083-1#140#153#diseaseC2748572 associated_with KCNJ10,EAST syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 35-41 HP:0001251 denotes ataxia
AB1 185-191 HP:0001251 denotes ataxia
AB2 791-799 HP:0001250 denotes seizures
AB3 823-853 HP:0002073 denotes progressive, cerebellar ataxia
AB4 890-898 HP:0001250 denotes seizures
AB5 935-941 HP:0001251 denotes ataxia

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1627-1632 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 1200-1209 http://purl.obolibrary.org/obo/UBERON_0002298 denotes brainstem
PD-UBERON-AE-B_T3 1347-1356 http://purl.obolibrary.org/obo/UBERON_0002298 denotes brainstem
PD-UBERON-AE-B_T4 1244-1255 http://purl.obolibrary.org/obo/UBERON_0002240 denotes spinal cord
PD-UBERON-AE-B_T5 1180-1186 http://purl.obolibrary.org/obo/UBERON_3000645 denotes corpus
PD-UBERON-AE-B_T6 1327-1333 http://purl.obolibrary.org/obo/UBERON_3000645 denotes corpus
PD-UBERON-AE-B_T7 1180-1195 http://purl.obolibrary.org/obo/UBERON_0002336 denotes corpus callosum
PD-UBERON-AE-B_T8 1327-1342 http://purl.obolibrary.org/obo/UBERON_0002336 denotes corpus callosum

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 234-247 ORDO:199343 denotes EAST syndrome
AB2 726-739 ORDO:199343 denotes EAST syndrome
AB3 1469-1482 ORDO:199343 denotes EAST syndrome
AB4 1576-1589 ORDO:199343 denotes EAST syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1180-1186 http://purl.obolibrary.org/obo/UBERON_3000645 denotes corpus
PD-UBERON-AE-B_T2 1327-1333 http://purl.obolibrary.org/obo/UBERON_3000645 denotes corpus
PD-UBERON-AE-B_T3 1180-1195 http://purl.obolibrary.org/obo/UBERON_0002336 denotes corpus callosum
PD-UBERON-AE-B_T4 1327-1342 http://purl.obolibrary.org/obo/UBERON_0002336 denotes corpus callosum
PD-UBERON-AE-B_T5 1200-1209 http://purl.obolibrary.org/obo/UBERON_0002298 denotes brainstem
PD-UBERON-AE-B_T6 1347-1356 http://purl.obolibrary.org/obo/UBERON_0002298 denotes brainstem
PD-UBERON-AE-B_T7 1244-1255 http://purl.obolibrary.org/obo/UBERON_0002240 denotes spinal cord
PD-UBERON-AE-B_T8 1627-1632 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain