E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report 


Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern

Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki.

Abstract
Background: Periventricular nodular heterotopia, a common form of neuronal heterotopia, is heterogeneous in etiology. Recessive mutations in ARFGEF2 causing microcephaly and periventricular heterotopia have rarely been reported.
Case Presentation: We report two Saudi siblings with a homozygous ARFGEF2 mutation (c.958 + 1G > A) presenting with microcephaly, dyskinetic movements, seizures, and a distinct brain magnetic resonance imaging pattern, describing the genotype and radiology phenotype correlation.
Conclusion: We speculate that the involvement of the putamen may be a key under recognized feature of ARFGEF2 mutations.

Key words: Case report, ARFGEF2 gene, microcephaly, periventricular nodular heterotopia, putamen


 
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Pubmed Style

Alojair M, Alghamdi A, Tlili K, Maddirevula S, Alkuraya FS, Tabarki B. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. JBCGenetics. 2018; 1(1): 40-42. doi:10.24911/JBCGenetics/183-1531469195


Web Style

Alojair M, Alghamdi A, Tlili K, Maddirevula S, Alkuraya FS, Tabarki B. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. https://www.jbcgenetics.com/?mno=667 [Access: December 05, 2023]. doi:10.24911/JBCGenetics/183-1531469195


AMA (American Medical Association) Style

Alojair M, Alghamdi A, Tlili K, Maddirevula S, Alkuraya FS, Tabarki B. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. JBCGenetics. 2018; 1(1): 40-42. doi:10.24911/JBCGenetics/183-1531469195



Vancouver/ICMJE Style

Alojair M, Alghamdi A, Tlili K, Maddirevula S, Alkuraya FS, Tabarki B. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. JBCGenetics. (2018), [cited December 05, 2023]; 1(1): 40-42. doi:10.24911/JBCGenetics/183-1531469195



Harvard Style

Alojair, M., Alghamdi, . A., Tlili, . K., Maddirevula, . S., Alkuraya, . F. S. & Tabarki, . B. (2018) Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. JBCGenetics, 1 (1), 40-42. doi:10.24911/JBCGenetics/183-1531469195



Turabian Style

Alojair, Maram, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, and Brahim Tabarki. 2018. Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. Journal of Biochemical and Clinical Genetics, 1 (1), 40-42. doi:10.24911/JBCGenetics/183-1531469195



Chicago Style

Alojair, Maram, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, and Brahim Tabarki. "Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern." Journal of Biochemical and Clinical Genetics 1 (2018), 40-42. doi:10.24911/JBCGenetics/183-1531469195



MLA (The Modern Language Association) Style

Alojair, Maram, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, and Brahim Tabarki. "Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern." Journal of Biochemical and Clinical Genetics 1.1 (2018), 40-42. Print. doi:10.24911/JBCGenetics/183-1531469195



APA (American Psychological Association) Style

Alojair, M., Alghamdi, . A., Tlili, . K., Maddirevula, . S., Alkuraya, . F. S. & Tabarki, . B. (2018) Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern. Journal of Biochemical and Clinical Genetics, 1 (1), 40-42. doi:10.24911/JBCGenetics/183-1531469195





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