All individuals with variants in gene KCNA1

5 entries on 1 page. Showing entries 1 - 5.
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00019890 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID Severe ID. Epilepsy (tonic-clonic seizures), myokymia. Normal height, head circumference -2 SD. Broad based walking pattern. Narrow long face, prominent supraorbital ridges, long nose and philtrum, thin upper lip, hypodontia, long fingers and toes and narrow thorax. 1 1 Marianne Vos (LOVD-team)
00081010 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EA-1 Episodic ataxia/myokymia syndrome (OMIM:160120) 1 1 Daniel Trujillano
00150119 - - - M - (Germany) - - 0 - - ? HP:0002131 (Episodic ataxia) 1 1 IMGAG
00290734 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00304366 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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