All individuals with variants in gene CACNA1A

492 entries on 5 pages. Showing entries 1 - 100.
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Population     

Age at death     

VIP     

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Disease     

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Variants     

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00054868 Pat6 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F - - - - - - - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy epilepsy and ataxia 1 1 Erik-Jan Kamsteeg
00073161 - ATX517 - F - France - - - - - SCAR - 1 1 Claire Guissart
00089207 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - EE epilepsy of infancy with migrating focal seizures 1 1 Johan den Dunnen
00089208 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 father unavailable F - - - - - - - EE early-onset epileptic encephalopathy 1 1 Johan den Dunnen
00089209 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE early-onset epileptic encephalopathy 1 1 Johan den Dunnen
00089210 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 mosaic mother M - - - - - - - EE early-onset epileptic encephalopathy 1 1 Johan den Dunnen
00089211 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE early-onset epileptic encephalopathy 1 1 Johan den Dunnen
00103880 28327206-PatBH3691_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? developmental delay, progressive cerebellar atrophy, hypotonia 1 1 Johan den Dunnen
00110547 - - - - - - - - - - - ? - 1 1 Elles Boon
00110548 - - - - - - - - - - - ? - 1 1 Elles Boon
00110549 - - - - - - - - - - - ? - 1 1 Elles Boon
00110550 - - - - - - - - - - - ? - 1 1 Elles Boon
00110551 - - - - - - - - - - - ? - 27 1 Elles Boon
00110552 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110553 - - - - - (Germany) - - - - - ? - 1 3 Birgit Neitzel
00110554 - - - - - - - - - - - ? - 1 1 Elles Boon
00110556 - - - - - - - - - - - ? - 1 1 Elles Boon
00110557 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110559 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110561 - - - - - - - - - - - ? - 1 1 Elles Boon
00110562 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110563 - - - - - - - - - - - ? - 1 1 Elles Boon
00110564 - - - - - - - - - - - ? - 1 1 Elles Boon
00110565 - - - - - - - - - - - ? - 1 1 Elles Boon
00110566 - - - - - - - - - - - ? - 1 1 Elles Boon
00110567 - - - - - - - - - - - ? - 1 1 Elles Boon
00110568 - - - - - - - - - - - ? - 1 1 Elles Boon
00110569 - - - - - - - - - - - ? - 1 1 Elles Boon
00110570 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110571 - - - - - - - - - - - ? - 1 1 Elles Boon
00110572 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110573 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110574 - - - - - - - - - - - ? - 1 1 Elles Boon
00110575 - - - - - - - - - - - ? - 1 1 Elles Boon
00110576 - - - - - (Germany) - - - - - FHM1 - 1 1 Birgit Neitzel
00110577 - - - - - (Germany) - - - - - ? microcephaly, recurrent passing hemiplegia; both grandmothers are affected by migraine; mental retardation 1 1 Birgit Neitzel
00110578 - - - - - - - - - - - ? - 1 1 Elles Boon
00110579 - - - - - - - - - - - ? - 1 1 Elles Boon
00110580 - - - - - - - - - - - ? - 1 1 Elles Boon
00110581 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110582 - - - - - (Germany) - - - - - ? no clinical information available 1 1 Birgit Neitzel
00110583 - - - - - (Germany) - - - - - ? no clinical information available 1 1 Birgit Neitzel
00110584 - - - - - (Germany) - - - - - FHM1 - 2 1 Birgit Neitzel
00110585 - - - - - (Germany) - - - - - ? no clinical information available 1 1 Birgit Neitzel
00110586 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110587 - - - - - (Germany) - - - - - ? mental retardation 1 1 Birgit Neitzel
00110588 - - - - - (Germany) - - - - - EA2 - 1 1 Birgit Neitzel
00110589 - - - - - (Germany) - - - - - ? no clinical information available 1 1 Birgit Neitzel
00110590 - - - - - (Germany) - - - - - FHM1 - 1 1 Birgit Neitzel
00110591 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110592 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110594 - - - - - (Germany) - - - - - FHM1 passing right-sided hemisymptomatics with aphasia and headache, later on progressing loss of memory and disturbances of equilibrium; mother suffers from regular migraine attacks; twin brother shows peculiar nature, gait and speech 1 1 Birgit Neitzel
00110595 - - - - - - - - - - - ? - 1 1 Elles Boon
00110596 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110598 - - - - - - - - - - - ? - 1 1 Elles Boon
00110599 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110600 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110602 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110603 - - - - - - - - - - - ? - 1 1 Elles Boon
00110604 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110605 - - - - - (Germany) - - - - - EA2 - 3 1 Birgit Neitzel
00110607 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110609 - - - - - - - - - - - ? - 1 1 Elles Boon
00110610 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110612 - - - - - - - - - - - ? - 1 1 Elles Boon
00110613 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110614 - - - - - (Germany) - - - - - EA2 episodic atxia 2 1 Birgit Neitzel
00110615 - - - - - - - - - - - ? - 1 1 Elles Boon
00110616 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110617 - - - - - - - - - - - ? - 1 1 Elles Boon
00110618 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110619 - - - - - - - - - - - ? - 1 1 Elles Boon
00110620 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110621 - - - - - - - - - - - ? - 1 1 Elles Boon
00110622 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110623 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110624 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110625 - - - - - - - - - - - ? - 1 1 Elles Boon
00110626 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110627 - - - - - - - - - - - ? - 1 1 Elles Boon
00110628 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110629 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110630 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110631 - - - - - - - - - - - ? - 1 1 Elles Boon
00110632 - - - - - - - - - - - ? - 1 1 Elles Boon
00110633 - - - - - - - - - - - ? - 1 1 Elles Boon
00110634 - - - - - - - - - - - ? - 1 1 Elles Boon
00110637 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110640 - - - - - - - - - - - ? - 1 1 Elles Boon
00110641 - - - - - - - - - - - ? - 1 1 Elles Boon
00110643 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110645 - - - - - (Germany) - - - - - EA2 episodic atxia 1 1 Birgit Neitzel
00110646 - - - - - - - - - - - ? - 1 1 Elles Boon
00110647 - - - - - - - - - - - ? - 1 1 Elles Boon
00110648 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110649 - - - - - (Germany) - - - - - ? - 1 1 Birgit Neitzel
00110650 - - - - - - - - - - - ? - 1 1 Elles Boon
00110651 - - - - - - - - - - - ? - 1 1 Elles Boon
00110654 - - - - - - - - - - - ? - 1 1 Elles Boon
00110658 - - - - - - - - - - - ? - 1 1 Elles Boon
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