Skip to main content

Advertisement

SpringerLink
Log in

A case of novel CACNA1A mutation causing type 2 episodic ataxia

  • Letter to the Editor
  • Published:
Neurological Sciences Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Data availability

Data sharing not applicable to this article as no datasets were generated or analysed during the current study.

References

  1. Damaj L, Lupien-Meilleur A, Lortie A, Riou É, Ospina LH, Gagnon L, Vanasse C, Rossignol E (2015) CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. Eur J Hum Genet 23(11):1505–1512

    Article  CAS  Google Scholar 

  2. Spacey SD, Materek LA, Szczygielski BI, Bird TD (2005) Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol 62(2):314–316

    Article  Google Scholar 

  3. Guterman EL, Yurgionas B, Nelson AB (2016) Pearls & Oysters: episodic ataxia type 2: case report and review of the literature. Neurology. 86(23):e239–e241

    Article  Google Scholar 

  4. Isaacs DA, Bradshaw MJ, Brown K, et al. Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. SAGE Open Med Case Rep. 2017; 5: 2050313X17706044. Published 2017 May 8

  5. Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J, Feil K, Kalla R, Miyai I, Nachbauer W, Schöls L, Strupp M, Synofzik M, Teufel J, Timmann D (2014 Apr) Consensus paper: management of degenerative cerebellar disorders. Cerebellum. 13(2):248–268

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. University of Missouri Health Care, 1 Hospital Drive, Columbia, MO, 65212, USA

    Pretty Sara Idiculla & Junaid Habib Siddiqui

  2. 202 Grasmere Drive, Staten Island, NY, 10305, USA

    Pretty Sara Idiculla

Authors
  1. Pretty Sara Idiculla
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Junaid Habib Siddiqui
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors have been involved in the preparation of this manuscript. All authors have read and approved the manuscript.

The corresponding author has full access to data and has the right to publish this data.

Corresponding author

Correspondence to Pretty Sara Idiculla.

Ethics declarations

Competing interests

The authors declare that they have no competing interests.

Ethics approval and consent to participate

Not applicable

The manuscript is not under simultaneous consideration by any other journal.

Consent for publication

Written informed consent for publication of their clinical details and/or clinical images was obtained from the patient/parent/guardian/ relative of the patient. A copy of the consent form is available for review by the Editor of this journal.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Idiculla, P.S., Siddiqui, J.H. A case of novel CACNA1A mutation causing type 2 episodic ataxia. Neurol Sci 42, 2577–2578 (2021). https://doi.org/10.1007/s10072-021-05059-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-021-05059-8

Search

Navigation