Full data view for gene CACNA1A

Information The variants shown are described using the transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
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Effect     

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AscendingDNA change (cDNA)     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

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Remarks     

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ID_report     

Reference     

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+?/+? 16 c.1997C>T - r.(?) p.(Thr666Met) - Unknown - NA g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro {PMID12235360:Tottene 2002} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.1997C>T - r.(?) p.(Thr666Met) - Unknown - NA g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro {PMID15294146:Cao 2004} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.1997C>T - r.(?) p.(Thr666Met) - Unknown - NA g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro {PMID15699344:Cao 2005} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.1997C>T - r.(?) p.(Thr666Met) - Unknown - NA g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro {PMID15795222:Barrett 2005} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - Germany - - - - Propranolol 40mg x 3/day 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United Kingdom (Great Britain) - - - - Acetazolamide 250mg X 2 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United Kingdom (Great Britain) - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - United Kingdom (Great Britain) - - - - Acetazolamide 250mg X 2 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Elliot 1996, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Elliot 1996, PubMed: Ophoff 1996 - M - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Elliot 1996, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Elliot 1996, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Elliot 1996, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Elliot 1996, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Elliot 1996, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Elliot 1996, PubMed: Ophoff 1996 - M - United States - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999, PubMed: Joutel 1993 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999, PubMed: Joutel 1993 In this family (N.1) 20 patients carry the p.Thr666Met. M - France - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999, PubMed: Joutel 1993 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999, PubMed: Joutel 1993 In this family (N.1) 20 patients carry the p.Thr666Met. M - France - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - Czech Republic - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Ducros 1999, PubMed: Joutel 1993 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999, PubMed: Joutel 1993 - M - France - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - Czech Republic - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - Czech Republic - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - Czech Republic - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - ? - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - Czech Republic - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Elliot 1996, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Elliot 1996, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Elliot 1996, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Elliot 1996, PubMed: Ophoff 1996 - M - United States - - - - Acetazolamide 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Elliot 1996, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Elliot 1996, PubMed: Ophoff 1996 - F - United States - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - F - Czech Republic - - - - no treatment known 1 LOVD
?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - VUS g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Kors 2003, PubMed: Ophoff 1996 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Kors 2003, PubMed: Ophoff 1996 - M - Czech Republic - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999, PubMed: Joutel 1993 - - Germline - - - - - DNA PCR, SEQ - - ataxia - PubMed: Ducros 1999, PubMed: Joutel 1993 In this family (N.1) 20 patients carry the p.Thr666Met. F - France - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999, PubMed: Joutel 1993 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999, PubMed: Joutel 1993 In this family (N.1) 20 patients carry the p.Thr666Met. M - France - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999, PubMed: Joutel 1993 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999, PubMed: Joutel 1993 In this family (N.1) 20 patients carry the p.Thr666Met. M - France - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999, PubMed: Joutel 1993 - - Germline - - - - - DNA PCR, SEQ - - ? - PubMed: Ducros 1999, PubMed: Joutel 1993 In this family (N.1) 20 patients carry the p.Thr666Met. F - France - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro PubMed: Freilinger 2008 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Freilinger 2008 Triggering factors of hemiplagic migraine: minor head trauma, change of weather M - Germany - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro PubMed: Freilinger 2008 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Freilinger 2008 Triggering factors of hemiplagic migraine: minor head trauma F - Germany - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro PubMed: Freilinger 2008 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Freilinger 2008 - F - Germany - - - - no treatment known 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Maternal (confirmed) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 tested expression in vitro PubMed: Freilinger 2008 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Freilinger 2008 Triggering factors of hemiplagic migraine: emotional stress F - Germany - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Maternal (confirmed) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Freilinger 2008 - - Germline - - - - - DNA SEQ - - ? - PubMed: Freilinger 2008 Atypical phenotype: Did not experience any hemiplegic attacks; except for an episode of reduced consciousness of a few hours duration without accompanying headache or hemiparesis at the age of 7 years. M - Germany - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Paternal (confirmed) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 92 controls PubMed: Thomsen 2007 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Thomsen 2007 Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67% F - Denmark - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Maternal (confirmed) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 92 controls PubMed: Thomsen 2007 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Thomsen 2007 Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67% M - Denmark - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Maternal (confirmed) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 92 controls PubMed: Thomsen 2007 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Thomsen 2007 Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67% M - Denmark - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 92 controls PubMed: Thomsen 2007 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Thomsen 2007 Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67% M - Denmark - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Paternal (inferred) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 92 controls PubMed: Thomsen 2007 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Thomsen 2007 Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%; FHM triggered by minor head trauma. F - Denmark - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 92 controls PubMed: Thomsen 2007 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Thomsen 2007 Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67% F - Denmark - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 92 controls PubMed: Thomsen 2007 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Thomsen 2007 Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%; FHM triggered by minor head trauma M - Denmark - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Paternal (confirmed) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 92 controls PubMed: Thomsen 2007 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Thomsen 2007 Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%; FHM triggered by minor head trauma M - Denmark - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Terwindt 2002 - - Germline - - - - - DNA PCR, SEQ, SSCA - - migraine - PubMed: Terwindt 2002 Patient with sporadic hemiplegic migraine (SHM) with permanent cerebellar ataxia and atrophy on computed tomographic scanning F - Netherlands - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.1) 18 patients carry the p.Thr666Met: 10 patients affected by hemiplegic migraine (HM) with nystagmus (N), 6 patients with HM only, 1 patient with HM, N and Cerebellar Ataxia (CA), 1 patient with N and CA but without HM. 3 patients with HM and N did not carry the mutation; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%) - - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.2) 5 patients carry the p.Thr666Met: 2 patients affected by hemiplegic migraine (HM) with nystagmus (N), 3 patients with HM, N and Cerebellar Ataxia (CA); The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%) - - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) - Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.3) 3 patients carry the p.Thr666Met: all the 3 patients affected by hemiplegic migraine (HM) with nystagmus (N) and Cerebellar Ataxia (CA). ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%) - - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) - Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.4) 2 patients carry the p.Thr666Met: 1 patient affected by hemiplegic migraine (HM) with nystagmus (N), 1 patient with HM only. ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%) - - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) - Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.5) 17 patients carry the p.Thr666Met: 6 patients affected by hemiplegic migraine (HM) with nystagmus (N), 5 patients with HM only, 6 patients with HM, N and Cerebellar Ataxia (CA). ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%); - - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.6) 5 patients carry the p.Thr666Met: 3 patients affected by hemiplegic migraine (HM) with nystagmus (N), 2 patients with HM only. ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%) - - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.7) 2 patients carry the p.Thr666Met: both patients affected by hemiplegic migraine (HM) with nystagmus (N). ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%) - - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Maternal (inferred) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.8) the proband had HM and nystagmus; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%) M - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Paternal (inferred) - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 In this family (N.9) the proband affected by hemiplegic migraine (HM) with nystagmus (N). ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%) F - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A T666M - CACNA1A_000014 not in 200 controls PubMed: Ducros 2001 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 2001 Patient affected by Hemiplegic Migraine with cerebellar signs - - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 PubMed: Joutel 1994 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999 PubMed: Joutel 1994 In this family (N.2) 5 patients carry the p.Thr666Met. - - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 PubMed: Joutel 1994 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Ducros 1999 PubMed: Joutel 1994 In this family (N.3) 3 patients carry the p.Thr666Met. - - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999 In this family (N.4) 2 patients carry p.Thr666Met. - - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999 In this family (N.5) 17 patients carry p.Thr666Met. - - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999 In this family (N.6) 5 patients carry the p.Thr666Met. - - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999 In this family (N.7) 2 patients carry the p. Thr666Met. - - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999 In this family (N.8) 2 patients carry the p.Thr666Met. - - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999 - M - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Takahashi 2002 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Takahashi 2002 Migraine attacks began in the fifth decade. F - Japan - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Takahashi 2002 - - Germline - - - - - DNA SEQ - - migraine - PubMed: Takahashi 2002 The patient had shown only cerebellar ataxia for more than 10 years before her first migraine attack. F - Japan - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 not in 200 controls PubMed: Ducros 1999 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Ducros 1999 In this family (N.9) 2 patients carry the p.Thr666Met. - - France - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II-P Unknown - likely pathogenic g.13414691G>A g.13303877G>A 2272C-to-T - CACNA1A_000014 - PubMed: Friend 1999 - - Germline - - - - - DNA SEQ, SSCA - - migraine - PubMed: Friend 1999 - M - Australia - - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II-P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - F - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II-P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - F - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II-P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - F - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - M - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - F - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - M - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - F - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - M - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - M - - European - - - - 1 LOVD
+/+? 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Dichgans 2005 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Dichgans 2005 - F - - European - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Unknown - likely pathogenic g.13414691G>A g.13303877G>A T666M - CACNA1A_000014 - PubMed: Yabe 2008 - - Germline - - - - - DNA PCR, SEQ - - ataxia - PubMed: Yabe 2008 The patient experienced episodes of staggering gait and slurred speech about once annually since about 63 years of age. Neurological examination disclosed mild gaze-evoked nystagmus,severe DPN (Downbeat Positioning Nystagmus), bilateral mild cerebellar ataxia in the heel-knee tapping test, and unstable tandem gait. Brain MRI revealed atrophy in the cerebellar vermis. She complained of vertigo associated with DPN. F - Japan - - - - - 1 LOVD
+?/. 16 c.1997C>T - r.(?) p.(Thr666Met) II P Maternal (confirmed) - likely pathogenic g.13414691G>A g.13303877G>A T666M - CACNA1A_000014 - PubMed: Yabe 2008 - - Germline - - - - - DNA PCR, SEQ - - migraine - PubMed: Yabe 2008 The patient had vertigo and oscillopsia that were more pronounced with changes in head posture, since about age 20. At the age of 36, he developed episodes of sudden onset hemiplegia with sensory disturbances on the left side of his body followed by headache.At the age of 43, he developed a staggering walk. Neurological examination revealed moderate gaze-evoked nystagmus, severe DPN(Downbeat Positioning Nystagmus),dysmetria of both legs and ataxia of gait.Brain MRI demonstrated cerebellar atrophy. M - Japan - - - - Acetazolamide 500 mg, two times daily 1 LOVD
+/. - c.1997C>T - r.(?) p.(Thr666Met) - Maternal (confirmed) - pathogenic (dominant) g.13414691G>A g.13303877G>A - - CACNA1A_000014 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat39 PubMed: Pronicka 2016 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.1997C>T - r.(?) p.(Thr666Met) - Parent #1 - pathogenic g.13414691G>A g.13303877G>A - - CACNA1A_000014 unaffected carrier parent PubMed: Zech 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES DYT CB-DYS-089 PubMed: Zech 2020 2-generation family, affected, unaffected carrier parent - - - - - - - - 2 Johan den Dunnen
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