Intrafamilial clinical polymorphism of CACNA1A-related disorders
https://doi.org/10.17749/2077-8333/epi.par.con.2026.268
Abstract
CACNA1A-related disorders include developmental and epileptic encephalopathy type 42, familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 with common сombined phenotypes observed. This article presents a case of intrafamilial clinical polymorphism with same CACNA1A gene mutation. In the father, episodes of ataxia with dizziness, observed over a 10-year period (from ages 7 to 17) were solely presented. The eldest son, in addition to episodic ataxia documented since age of three years old, experienced short absences starting from age 10, as well as delayed psycho-speech development. In the youngest son, onset of paroxysms of episodic ataxia was recorded at age 2, absences – at age 3, whereas disability due to psycho-speech underdevelopment was documented at age 5.
About the Authors
A. G. Malov
Vagner Perm State Medical University; Perm State National Research University
Russian Federation
Russian Federation
Aleksandr G. Malov, Dr. Sci. Med., Assoc. Prof., Prof.
26 Petropavlovskaya Str., Perm 614000
15 Bukireva Str., Perm 614068
T. P. Kalashnikova
Vagner Perm State Medical University
Russian Federation
Russian Federation
Tatyana P. Kalashnikova, Dr. Sci. Med., Prof.
26 Petropavlovskaya Str., Perm 614000
O. I. Tsymbal
Pichugin Children Clinical Hospital
Russian Federation
Russian Federation
Olga I. Tsymbal
43 Komsomolsky Ave., Perm 614000
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Review
For citations:
Malov A.G., Kalashnikova T.P., Tsymbal O.I. Intrafamilial clinical polymorphism of CACNA1A-related disorders. Epilepsy and paroxysmal conditions. 2026;18(2):153–157. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2026.268
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