Meet the patients and families affected by CACNA1A-related disorders
These are the champions who need our help to fight for treatment options. We hope these stories offer hope and guidance to others navigating a CACNA1A diagnosis.
| Child | Variant: c.4177G>A, (p.Val1393Met), Gain of Function | Seizures, hemiplegic migraines, developmental delays
USA | Adult | p.P1353L |motor delays, hypotonia, ataxia
USA | Child | R1349Q | hypotonia, seizures
USA | Toddler | p.V1393M, c.4177 G>A | Epilepsy, tremors, hypotonia
Ryker
USA | Child | c. 4186G>A, De Novo, p.Val1396Met, presumed Gain of Function | Seizures, hypotonia, global developmental delays
USA | Child | Variant c.4982 G>A, (p.Arg1661His), Prickle1: c.2105 G>A (p.Arg702Gln), Polg: c.3708 G>T (p.Gln1236His) | Speech delays, ataxia, seizures
Spain | Child | c.2129T>G, p.Leu710Trp | epilepsy, global developmental delays, hypoplasia
USA | Teen | Variant: R1349Q | Ataxia, global developmental delays
USA | Toddler | c.5588_5589del, (p.Leu1863Argfs*9) | Seizures, Developmental Delays, Hypotonia
Canada | Teen | F1796X | Hemiplegic migraines, ataxia, episodic weakness/paralysis
| Child | R1349Q | seizures intractable, cerebellar ataxia, feeding difficulties
USA | Infant | De Novo, c.4028C>A, (p.Ser1343Tyr) | migraines severe, hemiplegic episodes, speech delays
USA | Toddler | De Novo, c.4991 G>A, (p.R1664Q) | Seizures, motor delays, nystagmus (abnormal eye movements)
| Adult | Deletion | Episodic ataxia, migraines chronic, fatigue
France | Child | c.4988G>A, Argl663Gin | Developmental delays, epileptic seizures, muscle weakness
USA | Adult | c.4043G>C, (p.Arg1348Pro) | progressive ataxia, speech impairment, tremors
Germany | Child | De Novo, c.3460del | Infant onset seizures, hypotonia, developmental regression
United Kingdom | Infant | c. 4530C>G, p. Ile1510Met (I1510M) | Epilepsy, sensory processing difficulties, delayed motor milestones
USA | Infant | Variant: p. Y1384C | Ataxia, hypotonia, nonverbal
USA | Toddler | c.2042_2043del, p.(Q681 Rfs*100) | developmental disorders, mild cerebral palsy, autism, seizures, global developmental delays
| Child | p.R1667P (p.Arg1667Pro), c.5000; G>C, Mixed Function Variant | global developmental delays, hypotonia, feeding difficulties
USA | Toddler | G667R | epilepsy, ataxia, motor delays
USA | Child | c.877G>A, p.G293R | global developmental delays, hypotonia
| Child | c.4046, p.R1349Q (p.Arg1348GIn), Gain of Function | Motor impairments, hypotonia, ataxia
USA | Child | c.4031C>A, (p.Ser1344.Tyr) | Chronic ataxia, hypotonia, global developmental delays
USA | Child | c.439 C>A, (p.Glu147Lys) | Ataxia, epilepsy, global developmental delays
USA | Child | c.4067 C>T, (p.T1356I) | hemiplegic migraines, lack of coordination
USA | Child | Variant: A713T, Gain of Function | hemiplegic migraines, vertigo, nausea/vomiting episodes
Australia | Child | De Novo, c.1072G>A, p.(Val358Met) |
| Child | De Novo pathogenic, c.4991 G>A, (p.R1664Q) |
USA | Child | A713T | epilepsy severe, Hypotonia, developmental delays
USA | Child | c.5843-2A>G (Splice acceptor), Loss of Function | Episodic ataxia, Muscle weakness, fatigue
Canada | Toddler | De Novo (splice set variant), c. 978 +5 G > | Developmental delays, Seizures, Motor coordination challenges
United Kingdom | Toddler | De Novo Pathogenic | Ataxia, Speech delays, Migraine episodes
Canada | Teen | Arg1351Gln or R1351Q | Epilepsy, Hypotonia, Cognitive impairment
United Kingdom | Child | | Episodic ataxia, Hemiplegic migraines, Coordination difficulties
USA | Child | c.5253-?_5734+?del (deletion on exons 35 - 38) | seizures severe, Developmental delays, Feeding and growth challenges
Colson
USA | Toddler | c.1844T>A, (p.ile615Asn - I615N) | Epileptic encephalopathy, Hypotonia, Developmental regression
France | Child | Variant: c.4072C>T, p.Arg1358Trp | developmental disorders, ataxia
James
USA | Toddler | | seizures
USA | Adult | c.4900G>A, (p. Asp1634Asn), Confirmed Loss of Function | epilepsy, ataxia
| Child | De Novo pathological, c.4304T>C (L1345P) | epilepsy, global developmental delays
Russia | Infant | De Novo | Global developmental delays, epilepsy
USA | Child | p.R1349Q | seizures, hemiplegic migraines, ADHD
| Toddler | C.5018dupG, p.Q1674SfsX43 | hypotonia, developmental delays, ocular motor apraxia
Russia | Child | p.Ile108Val | epilepsy, hypotonia, ataxia
| Adult | c.835C>T, p.R279C |Ataxia, global developmental delays
| Toddler | De Novo, c.2314A>T, (p.Lys772*) | Progressive ataxia, Migraine headaches, Speech difficulties
| Teen | c.5625del, p.C1875* | Hemiplegic migraines, Brain fog, Chronic fatigue
USA | Child | R1349Q | Seizures, Motor delays, Balance impairment
USA | Toddler | c.5422G>A, (p.Ala1808Thr) | Developmental delays, Epilepsy, Muscle weakness
Netherlands | Adult | C.4603-1G>A | Episodic ataxia, Vertigo, migraines chronic
United Kingdom | Toddler | De Novo, V1393M, Gain of Function | Infant onset seizures, Developmental delays, Hypotonia
Croatia | Child | De Novo, A1808S | Ataxia, Eye movement abnormalities, Fatigue
Argentina | Child | Gly2200Ser | Epileptic seizures, Developmental delays, Motor coordination issues
USA | Adult | V1393M, confirmed Gain of Function | epilepsy severe , Hypotonia, Global developmental delays
Spain | Child | Arg192Gln | Ataxia, Migraines, Balance impairment
USA | Child | | Hemiplegic migraines, Episodic paralysism, Vertigo
Elly
Sweden | Child | | migraines, epilepsy, ataxia, nystagmus (abnormal eye movements), autism
Destiny
USA | Adult | Variant c.2750G>A, (p.Trp917Ter) | autism, intellectual disability, adhd, seizure disorder, hypotonia, migraines