> top > projects > sentences > docs > PubMed:23924083 > annotations
sentences Home  

PubMed:23924083 JSONTXT 12 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-88 Sentence denotes Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
T1 0-88 Sentence denotes Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
TextSentencer_T2 89-93 Sentence denotes AIM:
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.
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.
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:
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.
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:
T7 741-749 Sentence denotes RESULTS:
TextSentencer_T8 750-811 Sentence denotes All children presented with tonic-clonic seizures in infancy.
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.
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.
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.
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.
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.
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:
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.
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.
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.
T17 1663-1764 Sentence denotes Further longitudinal documentation is required to determine the true natural history of the disorder.