Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2092612319', 'doi': 'https://doi.org/10.1016/j.neuroscience.2008.05.028', 'title': 'Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies', 'display_name': 'Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies', 'publication_year': 2008, 'publication_date': '2008-07-01', 'ids': {'openalex': 'https://openalex.org/W2092612319', 'doi': 'https://doi.org/10.1016/j.neuroscience.2008.05.028', 'mag': '2092612319', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/18597946', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/2633778'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.neuroscience.2008.05.028', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S30122339', 'display_name': 'Neuroscience', 'issn_l': '0306-4522', 'issn': ['0306-4522', '1873-7544'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://europepmc.org/articles/pmc2633778?pdf=render', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5103090722', 'display_name': 'Takafumi Miki', 'orcid': 'https://orcid.org/0000-0002-4936-5604'}, 'institutions': [{'id': 'https://openalex.org/I22299242', 'display_name': 'Kyoto University', 'ror': 'https://ror.org/02kpeqv85', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I22299242']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'T. Miki', 'raw_affiliation_strings': ['Laboratory of Molecular Biology, Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University Kyoto Japan'], 'affiliations': [{'raw_affiliation_string': 'Laboratory of Molecular Biology, Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University Kyoto Japan', 'institution_ids': ['https://openalex.org/I22299242']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5029324900', 'display_name': 'Theresa A. Zwingman', 'orcid': 'https://orcid.org/0000-0001-8798-7386'}, 'institutions': [{'id': 'https://openalex.org/I1314596251', 'display_name': 'Allen Institute for Brain Science', 'ror': 'https://ror.org/00dcv1019', 'country_code': 'US', 'type': 'facility', 'lineage': ['https://openalex.org/I1314596251', 'https://openalex.org/I4210140341']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'T.A. Zwingman', 'raw_affiliation_strings': ['Allen Institute for Brain Science, Seattle, WA, 98103, USA.'], 'affiliations': [{'raw_affiliation_string': 'Allen Institute for Brain Science, Seattle, WA, 98103, USA.', 'institution_ids': ['https://openalex.org/I1314596251']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5037277695', 'display_name': 'Minoru Wakamori', 'orcid': 'https://orcid.org/0000-0001-8574-3310'}, 'institutions': [{'id': 'https://openalex.org/I22299242', 'display_name': 'Kyoto University', 'ror': 'https://ror.org/02kpeqv85', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I22299242']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'M. Wakamori', 'raw_affiliation_strings': ['Laboratory of Molecular Biology, Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University, 615-8510 Kyoto, Japan'], 'affiliations': [{'raw_affiliation_string': 'Laboratory of Molecular Biology, Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University, 615-8510 Kyoto, Japan', 'institution_ids': ['https://openalex.org/I22299242']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5041935915', 'display_name': 'Cat Lutz', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210115256', 'display_name': 'Jackson Laboratory', 'ror': 'https://ror.org/021sy4w91', 'country_code': 'US', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210115256']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'C.M. Lutz', 'raw_affiliation_strings': ['The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA'], 'affiliations': [{'raw_affiliation_string': 'The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA', 'institution_ids': ['https://openalex.org/I4210115256']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5064923054', 'display_name': 'Susan A. Cook', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210115256', 'display_name': 'Jackson Laboratory', 'ror': 'https://ror.org/021sy4w91', 'country_code': 'US', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210115256']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'S.A. Cook', 'raw_affiliation_strings': ['The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA'], 'affiliations': [{'raw_affiliation_string': 'The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA', 'institution_ids': ['https://openalex.org/I4210115256']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045727471', 'display_name': 'David A. Hosford', 'orcid': None}, 'institutions': [], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'D.A. Hosford', 'raw_affiliation_strings': ['Targacept, Inc., 200 East First Street, Winston-Salem, NC 27101-4165, USA'], 'affiliations': [{'raw_affiliation_string': 'Targacept, Inc., 200 East First Street, Winston-Salem, NC 27101-4165, USA', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5019963761', 'display_name': 'Karl Herrup', 'orcid': 'https://orcid.org/0000-0001-7786-5844'}, 'institutions': [{'id': 'https://openalex.org/I102322142', 'display_name': 'Rutgers, The State University of New Jersey', 'ror': 'https://ror.org/05vt9qd57', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I102322142']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'K. Herrup', 'raw_affiliation_strings': ['Department of Cell Biology & Neuroscience, Rutgers University, Piscataway, NJ 08854, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Cell Biology & Neuroscience, Rutgers University, Piscataway, NJ 08854, USA', 'institution_ids': ['https://openalex.org/I102322142']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5004903132', 'display_name': 'Colin Fletcher', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1299303238', 'display_name': 'National Institutes of Health', 'ror': 'https://ror.org/01cwqze88', 'country_code': 'US', 'type': 'government', 'lineage': ['https://openalex.org/I1299022934', 'https://openalex.org/I1299303238']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'C.F. Fletcher', 'raw_affiliation_strings': ['National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892. USA'], 'affiliations': [{'raw_affiliation_string': 'National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892. USA', 'institution_ids': ['https://openalex.org/I1299303238']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5078967543', 'display_name': 'Yasuo Mori', 'orcid': 'https://orcid.org/0000-0001-7180-1938'}, 'institutions': [{'id': 'https://openalex.org/I22299242', 'display_name': 'Kyoto University', 'ror': 'https://ror.org/02kpeqv85', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I22299242']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Y. Mori', 'raw_affiliation_strings': ['Laboratory of Molecular Biology, Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University, 615-8510 Kyoto, Japan'], 'affiliations': [{'raw_affiliation_string': 'Laboratory of Molecular Biology, Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University, 615-8510 Kyoto, Japan', 'institution_ids': ['https://openalex.org/I22299242']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5068836840', 'display_name': 'Wayne N. Frankel', 'orcid': 'https://orcid.org/0000-0003-2241-5314'}, 'institutions': [{'id': 'https://openalex.org/I4210115256', 'display_name': 'Jackson Laboratory', 'ror': 'https://ror.org/021sy4w91', 'country_code': 'US', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210115256']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'W.N. Frankel', 'raw_affiliation_strings': ['The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA'], 'affiliations': [{'raw_affiliation_string': 'The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA', 'institution_ids': ['https://openalex.org/I4210115256']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5059404579', 'display_name': 'Verity A. Letts', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210115256', 'display_name': 'Jackson Laboratory', 'ror': 'https://ror.org/021sy4w91', 'country_code': 'US', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210115256']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'V.A. Letts', 'raw_affiliation_strings': ['The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA'], 'affiliations': [{'raw_affiliation_string': 'The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA', 'institution_ids': ['https://openalex.org/I4210115256']}]}], 'countries_distinct_count': 2, 'institutions_distinct_count': 5, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 3000, 'currency': 'USD', 'value_usd': 3000, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 1.689, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 58, 'citation_normalized_percentile': {'value': 0.999983, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 95, 'max': 96}, 'biblio': {'volume': '155', 'issue': '1', 'first_page': '31', 'last_page': '44'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10493', 'display_name': 'Molecular Mechanisms of Ion Channels Regulation', 'score': 0.9997, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10493', 'display_name': 'Molecular Mechanisms of Ion Channels Regulation', 'score': 0.9997, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10949', 'display_name': 'Molecular Mechanisms of Neurodegenerative Diseases', 'score': 0.9996, 'subfield': {'id': 'https://openalex.org/subfields/2804', 'display_name': 'Cellular and Molecular Neuroscience'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10919', 'display_name': 'Deep Brain Stimulation for Neurological Disorders', 'score': 0.9973, 'subfield': {'id': 'https://openalex.org/subfields/2728', 'display_name': 'Neurology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/calcium-channels', 'display_name': 'Calcium Channels', 'score': 0.577688}, {'id': 'https://openalex.org/keywords/potassium-channels', 'display_name': 'Potassium Channels', 'score': 0.521958}], 'concepts': [{'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.6368711}, {'id': 'https://openalex.org/C143065580', 'wikidata': 'https://www.wikidata.org/wiki/Q3285695', 'display_name': 'Mutant', 'level': 3, 'score': 0.58802396}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.5673437}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.51235425}, {'id': 'https://openalex.org/C85520022', 'wikidata': 'https://www.wikidata.org/wiki/Q15322916', 'display_name': 'Calcium channel', 'level': 3, 'score': 0.5058241}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5004525}, {'id': 'https://openalex.org/C18699975', 'wikidata': 'https://www.wikidata.org/wiki/Q14905735', 'display_name': 'Voltage-dependent calcium channel', 'level': 3, 'score': 0.464068}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.41835436}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.3420496}, {'id': 'https://openalex.org/C519063684', 'wikidata': 'https://www.wikidata.org/wiki/Q706', 'display_name': 'Calcium', 'level': 2, 'score': 0.30006737}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.25304413}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.2263234}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.10352531}], 'mesh': [{'descriptor_ui': 'D020864', 'descriptor_name': 'Calcium Channels, N-Type', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009422', 'descriptor_name': 'Nervous System Diseases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000409', 'descriptor_name': 'Alanine', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000409', 'descriptor_name': 'Alanine', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000831', 'descriptor_name': 'Animals, Newborn', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D064026', 'descriptor_name': 'Calbindins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020864', 'descriptor_name': 'Calcium Channels, N-Type', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002478', 'descriptor_name': 'Cells, Cultured', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003545', 'descriptor_name': 'Cysteine', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003545', 'descriptor_name': 'Cysteine', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004195', 'descriptor_name': 'Disease Models, Animal', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005998', 'descriptor_name': 'Glycine', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005998', 'descriptor_name': 'Glycine', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D049452', 'descriptor_name': 'Green Fluorescent Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D049452', 'descriptor_name': 'Green Fluorescent Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D049452', 'descriptor_name': 'Green Fluorescent Proteins', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D015640', 'descriptor_name': 'Ion Channel Gating', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015640', 'descriptor_name': 'Ion Channel Gating', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D008564', 'descriptor_name': 'Membrane Potentials', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008564', 'descriptor_name': 'Membrane Potentials', 'qualifier_ui': 'Q000187', 'qualifier_name': 'drug effects', 'is_major_topic': False}, {'descriptor_ui': 'D008564', 'descriptor_name': 'Membrane Potentials', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D008564', 'descriptor_name': 'Membrane Potentials', 'qualifier_ui': 'Q000528', 'qualifier_name': 'radiation effects', 'is_major_topic': False}, {'descriptor_ui': 'D051379', 'descriptor_name': 'Mice', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008807', 'descriptor_name': 'Mice, Inbred BALB C', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008810', 'descriptor_name': 'Mice, Inbred C57BL', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008817', 'descriptor_name': 'Mice, Mutant Strains', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008958', 'descriptor_name': 'Models, Molecular', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009422', 'descriptor_name': 'Nervous System Diseases', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D009422', 'descriptor_name': 'Nervous System Diseases', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D009422', 'descriptor_name': 'Nervous System Diseases', 'qualifier_ui': 'Q000503', 'qualifier_name': 'physiopathology', 'is_major_topic': False}, {'descriptor_ui': 'D018408', 'descriptor_name': 'Patch-Clamp Techniques', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011689', 'descriptor_name': 'Purkinje Cells', 'qualifier_ui': 'Q000502', 'qualifier_name': 'physiology', 'is_major_topic': False}, {'descriptor_ui': 'D011689', 'descriptor_name': 'Purkinje Cells', 'qualifier_ui': 'Q000648', 'qualifier_name': 'ultrastructure', 'is_major_topic': False}, {'descriptor_ui': 'D011689', 'descriptor_name': 'Purkinje Cells', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D011689', 'descriptor_name': 'Purkinje Cells', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D064030', 'descriptor_name': 'S100 Calcium Binding Protein G', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D064030', 'descriptor_name': 'S100 Calcium Binding Protein G', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016622', 'descriptor_name': 'Silver Staining', 'qualifier_ui': 'Q000379', 'qualifier_name': 'methods', 'is_major_topic': False}, {'descriptor_ui': 'D016622', 'descriptor_name': 'Silver Staining', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013912', 'descriptor_name': 'Threonine', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D013912', 'descriptor_name': 'Threonine', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014446', 'descriptor_name': 'Tyrosine 3-Monooxygenase', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D014446', 'descriptor_name': 'Tyrosine 3-Monooxygenase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 4, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.neuroscience.2008.05.028', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S30122339', 'display_name': 'Neuroscience', 'issn_l': '0306-4522', 'issn': ['0306-4522', '1873-7544'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc2633778', 'pdf_url': 'https://europepmc.org/articles/pmc2633778?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'acceptedVersion', 'is_accepted': True, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633778', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'acceptedVersion', 'is_accepted': True, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/18597946', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc2633778', 'pdf_url': 'https://europepmc.org/articles/pmc2633778?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'acceptedVersion', 'is_accepted': True, 'is_published': False}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.44}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 52, 'referenced_works': ['https://openalex.org/W1501756216', 'https://openalex.org/W1526590978', 'https://openalex.org/W1603155066', 'https://openalex.org/W1630474277', 'https://openalex.org/W1738059634', 'https://openalex.org/W1822512648', 'https://openalex.org/W1859463348', 'https://openalex.org/W1954929088', 'https://openalex.org/W1971702631', 'https://openalex.org/W1974623748', 'https://openalex.org/W1975070497', 'https://openalex.org/W1976817332', 'https://openalex.org/W1979055442', 'https://openalex.org/W1988937009', 'https://openalex.org/W2005514506', 'https://openalex.org/W2009667219', 'https://openalex.org/W2021432124', 'https://openalex.org/W2022496032', 'https://openalex.org/W2023541632', 'https://openalex.org/W2025197615', 'https://openalex.org/W2031314553', 'https://openalex.org/W2032520543', 'https://openalex.org/W2032950588', 'https://openalex.org/W2037812600', 'https://openalex.org/W2040146909', 'https://openalex.org/W2046843568', 'https://openalex.org/W2053467191', 'https://openalex.org/W2054605659', 'https://openalex.org/W2060914761', 'https://openalex.org/W2063251377', 'https://openalex.org/W2063829584', 'https://openalex.org/W2064551580', 'https://openalex.org/W2065719271', 'https://openalex.org/W2071598044', 'https://openalex.org/W2085315032', 'https://openalex.org/W2087248500', 'https://openalex.org/W2090157435', 'https://openalex.org/W2091402020', 'https://openalex.org/W2096006516', 'https://openalex.org/W2107894529', 'https://openalex.org/W2108832750', 'https://openalex.org/W2112520390', 'https://openalex.org/W2114891381', 'https://openalex.org/W2130950628', 'https://openalex.org/W2136825971', 'https://openalex.org/W2137422943', 'https://openalex.org/W2149476727', 'https://openalex.org/W2151443000', 'https://openalex.org/W2153704590', 'https://openalex.org/W2158561409', 'https://openalex.org/W2407931818', 'https://openalex.org/W3144254057'], 'related_works': ['https://openalex.org/W4360860156', 'https://openalex.org/W4206355983', 'https://openalex.org/W2955355023', 'https://openalex.org/W2357391547', 'https://openalex.org/W2144178316', 'https://openalex.org/W2121293490', 'https://openalex.org/W2031844916', 'https://openalex.org/W1991289683', 'https://openalex.org/W1983267597', 'https://openalex.org/W1914122617'], 'abstract_inverted_index': {'The': [0, 40, 63, 82, 100, 121, 142, 151], 'calcium': [1, 13, 196], 'channel': [2], 'CACNA1A': [3], 'gene': [4, 20], 'encodes': [5], 'the': [6, 11, 47, 87, 96, 111, 194], 'pore-forming,': [7], 'voltage-sensitive': [8], 'subunit': [9], 'of': [10, 79, 95, 110, 139, 193], 'voltage-dependent': [12], 'Ca(v)2.1': [14, 112, 175, 195], 'type': [15, 38], 'channel.': [16, 197], 'Mutations': [17], 'in': [18, 76, 157], 'this': [19, 168], 'have': [21], 'been': [22], 'linked': [23], 'to': [24, 69, 130, 163, 190], 'several': [25], 'human': [26], 'disorders,': [27], 'including': [28], 'familial': [29], 'hemiplegic': [30], 'migraine,': [31], 'episodic': [32], 'ataxia': [33, 37], '2': [34], 'and': [35, 61, 91, 107, 147, 161], 'spinocerebellar': [36], '6.': [39], 'mouse': [41, 144, 181], 'homologue,': [42], 'Cacna1a,': [43], 'is': [44, 66, 171], 'associated': [45], 'with': [46], 'tottering,': [48], 'Cacna1a(tg),': [49], 'mutant': [50, 58, 85, 102], 'series.': [51], 'Here': [52], 'we': [53], 'describe': [54], 'two': [55, 179], 'new': [56], 'missense': [57], 'alleles,': [59], 'Cacna1a(tg-4J)': [60, 64, 84, 101], 'Cacna1a(Tg-5J).': [62], 'mutation': [65, 71, 124, 153], 'a': [67, 126, 155], 'valine': [68], 'alanine': [70], 'at': [72, 132], 'amino': [73, 133], 'acid': [74, 134], '581,': [75], 'segment': [77, 137], 'S5': [78], 'domain': [80, 140], 'II.': [81], 'recessive': [83], 'exhibited': [86], 'ataxia,': [88], 'paroxysmal': [89], 'dyskinesia': [90], 'absence': [92], 'seizures': [93], 'reminiscent': [94], 'original': [97], 'tottering': [98, 119, 180], 'mouse.': [99], 'also': [103], 'showed': [104], 'altered': [105], 'activation': [106, 160], 'inactivation': [108, 162], 'kinetics': [109], 'channel,': [113], 'not': [114], 'previously': [115], 'reported': [116], 'for': [117, 173], 'other': [118], 'alleles.': [120], 'semi-dominant': [122], 'Cacna1a(Tg-5J)': [123, 152], 'changed': [125], 'conserved': [127], 'arginine': [128, 169], 'residue': [129, 170], 'glutamine': [131], '1252': [135], 'within': [136], 'S4': [138], 'III.': [141], 'heterozygous': [143], 'was': [145], 'ataxic': [146], 'homozygotes': [148], 'rarely': [149], 'survived.': [150], 'caused': [154], 'shift': [156], 'both': [158], 'voltage': [159, 176], 'lower': [164], 'voltages,': [165], 'showing': [166], 'that': [167], 'critical': [172], 'sensing': [174], 'changes.': [177], 'These': [178], 'models': [182], 'illustrate': [183], 'how': [184], 'novel': [185], 'allelic': [186], 'variants': [187], 'can': [188], 'contribute': [189], 'functional': [191], 'studies': [192]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2092612319', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 2}, {'year': 2021, 'cited_by_count': 5}, {'year': 2020, 'cited_by_count': 4}, {'year': 2019, 'cited_by_count': 2}, {'year': 2018, 'cited_by_count': 3}, {'year': 2017, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 4}, {'year': 2015, 'cited_by_count': 3}, {'year': 2014, 'cited_by_count': 8}, {'year': 2013, 'cited_by_count': 5}, {'year': 2012, 'cited_by_count': 4}], 'updated_date': '2024-08-31T22:27:10.238044', 'created_date': '2016-06-24'}