All individuals with variants in gene CACNA1E

39 entries on 1 page. Showing entries 1 - 39.
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00184047 30343943_Ind01 PubMed: Helbig 2018 - M - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI white matter volume loss; spastic quadriplegia, hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184048 30343943_Ind02 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG hyps, multifocal discharges; MRI normal; severe truncal hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184049 30343943_Ind03 PubMed: Helbig 2018 - F - - - 25y - - - ? see paper; …; seizures; EEG multifocal discharges; MRI normal; spastic quadriplegia, hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); +; macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184050 30343943_Ind04 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI normal; spastic dystonic quadriplegia, hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184051 30343943_Ind05 PubMed: Helbig 2018 - M - - - - - - - ? see paper; …; seizures; EEG slow spike-wave; MRI normal; hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184052 30343943_Ind06 PubMed: Helbig 2018 - M - - - 2y - - - ? see paper; …; seizures; EEG multifocal discharges; MRI cortical atrophy; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184053 30343943_Ind07 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI cortical atrophy; spastic dystonic quadriplegia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184054 30343943_Ind08 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; CSWS; MRI white matter volume loss; hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184055 30343943_Ind09 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG temporal spikes; MRI hyperintense T2 signal in parieto-occipital region; severe axial hypotonia, neck dystonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), chorea (HP:0002072); congenital contractures (HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184056 30343943_Ind10 PubMed: Helbig 2018 - M - - - - - - - ? see paper; …; seizures; EEG hyps, polyspike-wave; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), dyskinesia, (HP:0100660), myoclonus (HP:0001336); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184057 30343943_Ind11 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; no seizures; EEG multifocal discharges; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344); dystonia (HP:0001332); congenital contractures (HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184058 30343943_Ind12 PubMed: Helbig 2018 - M - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI normal; severe hypotonia, hyporeflexia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184059 30343943_Ind13 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; no seizures; EEG multifocal discharges; MRI normal; severe diffuse hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), hyperkinetic; no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184060 30343943_Ind14 PubMed: Helbig 2018 - F - - - 4y - - - ? see paper; …; seizures; EEG hyps, multifocal discharges; MRI normal; profound hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184061 30343943_Ind15 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG hyps, multifocal discharges; MRI normal; severe diffuse hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184062 30343943_Ind16 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI normal; hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), chorea (HP:0002072); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184063 30343943_Ind17 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI cortical atrophy; hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184064 30343943_Ind18 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); chorea (HP:0002072); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184065 30343943_Ind19 PubMed: Helbig 2018 - M - - - - - - - ? see paper; …; seizures; EEG multifocal discharges, hyps; MRI Normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184066 30343943_Ind20 PubMed: Helbig 2018 - M - - - - - - - ? see paper; …; seizures; EEG hyps; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184067 30343943_Ind21 PubMed: Helbig 2018 - M - - - 3y - - - ? see paper; …; seizures; EEG hyps, multifocal discharges; MRI normal; severe hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184068 30343943_Ind22 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI cortical atrophy; profound hypotonia, spastic quadriplegia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dyskinesia (HP:0100660); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184069 30343943_Ind23 PubMed: Helbig 2018 - F - - - 1y - - - ? see paper; …; seizures; EEG hyps; MRI T2 hyperintensity in basal ganglia; diffuse hypotonia; profound developmental delay (HP:0012736); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184070 30343943_Ind24 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI normal; severe axial hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184071 30343943_Ind25 PubMed: Helbig 2018 - M - - - - - - - ? see paper; …; seizures; EEG unavailable; MRI unavailable; hyptonia, spastic quadriplegia; developmental delay (HP:0001263) 1 1 Johan den Dunnen
00184072 30343943_Ind26 PubMed: Helbig 2018 - M - - - 10m - - - ? see paper; …; seizures; EEG burst-suppression; MRI normal; axial hypotonia; profound developmental delay (HP:0012736); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256) 1 1 Johan den Dunnen
00184073 30343943_Ind27 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; seizures; EEG multifocal discharges; MRI normal; mild hypotonia; severe developmental delay (HP:0011344), poor speech (HP:0002465), walks with assistance; no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184074 30343943_Ind28 PubMed: Helbig 2018 - F - - - - - - - ? see paper; …; no seizures; EEG not done; MRI normal; hypotonia; severe developmental delay (HP:0011344), poor speech (HP:0002465), ambulant; no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184075 30343943_Ind29 PubMed: Helbig 2018 - M - - - - - - - ? see paper; …; no seizures; EEG not done; MRI delayed myelination; profound appendicular hypotonia; severe developmental delay (HP:0011344), poor speech (HP:0002465), ambulant; no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184076 30343943_Ind30 PubMed: Helbig 2018 - F - - - 2y - - - ? see paper; …; seizures; EEG multifocal discharges; MRI thin corpus callosum; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256) 1 1 Johan den Dunnen
00184077 30343943-Ind31 PubMed: Helbig 2018 - F - - - - - - - ? see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words 1 1 Johan den Dunnen
00184078 30343943-Ind32 PubMed: Helbig 2018 unaffected heterozygous carrier father F - - - - - - - DD see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words 1 1 Johan den Dunnen
00184079 30343943-Ind33 PubMed: Helbig 2018 - M - - - - - - - DD see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words 1 1 Johan den Dunnen
00269521 - PubMed: Minardi 2020 - M - Italy - - - - - EIEE Epileptic Encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00303065 Pat107 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 2 1 Johan den Dunnen
00427983 A053 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00428015 A155 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00431886 SIDS220 - - M - Switzerland Europe 00y05m - - - SIDS SIDS 1 1 Cordula Haas
00438320 Pat38 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0001281 tetany; HP:0002373 febrile seizures; HP:0012378 fatigue; HP:0002500 abnormality of the cerebral white matter; HP:0001028 hemangioma 1 1 Johan den Dunnen
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