Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation

Seiya Yamagata, Ayako Hattori, Fuyuki Miya, Yuko Kubota, Takeshi Endo, Yutaka Negishi, Yuji Nakamura, Tatsuhiko Tsunoda, Kenjiro Kosaki, Shinji Saitoh

Research output: Contribution to journalArticle

Abstract

Mutations in the pogo transposable element with zinc finger domain(POGZ)gene are associated with autism spectrum disorder (ASD)and intellectual disability. A total of 40 cases have been reported, and their clinical features include severe phenotypes such as severe speech and language delay, vision problems, microcephaly, and a predisposition towards obesity. Although 20% of these cases showed EEG abnormalities, epilepsy has not been reported. We present the case of a patient with refractory epilepsy and regression in which whole exome sequencing identified a de novo heterozygous POGZ mutation(c.2102del;p.Pro701Leufs 18). He was diagnosed with autism spectrum disorder at 6 years of age. From 7 years and 8 months of age, he experienced epileptic seizures that involved falling backwards, head nodding and ocular deviation. An EEG showed a spike-and-slow-wave at F3 and F4. He was diagnosed with frontal lobe epilepsy, and treated with various anti-epileptic drugs (e.g. CZP, VPA, CLB, PHT, LTG, PB, CBZ and LEV), which eventually reduced his epileptic seizures from over 10 to 2-3 times per day. Moreover, this patient had repetitive aspiration pneumonia from 14 years of age, necessitating a tracheotomy and laryngo-tracheal separation. Phenotypes associated with a POGZ mutation might, therefore, have a wider spectrum than previously recognized, and include not only ASD, but various neurological problems such as progressive epilepsy syndrome.

Original languageEnglish
Pages (from-to)29-32
Number of pages4
JournalNo To Hattatsu
Volume51
Issue number1
DOIs
Publication statusPublished - 2019 Jan 1

Fingerprint

Epilepsy
Mutation
Language Development Disorders
Electroencephalography
Accidental Falls
Frontal Lobe Epilepsy
Exome
Phenotype
Aspiration Pneumonia
Microcephaly
Tracheotomy
DNA Transposable Elements
Zinc Fingers
Intellectual Disability
Obesity
Head
Pharmaceutical Preparations
Autism Spectrum Disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Yamagata, S., Hattori, A., Miya, F., Kubota, Y., Endo, T., Negishi, Y., ... Saitoh, S. (2019). Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation. No To Hattatsu, 51(1), 29-32. https://doi.org/10.11251/ojjscn.51.29

Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation. / Yamagata, Seiya; Hattori, Ayako; Miya, Fuyuki; Kubota, Yuko; Endo, Takeshi; Negishi, Yutaka; Nakamura, Yuji; Tsunoda, Tatsuhiko; Kosaki, Kenjiro; Saitoh, Shinji.

In: No To Hattatsu, Vol. 51, No. 1, 01.01.2019, p. 29-32.

Research output: Contribution to journalArticle

Yamagata, S, Hattori, A, Miya, F, Kubota, Y, Endo, T, Negishi, Y, Nakamura, Y, Tsunoda, T, Kosaki, K & Saitoh, S 2019, 'Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation', No To Hattatsu, vol. 51, no. 1, pp. 29-32. https://doi.org/10.11251/ojjscn.51.29
Yamagata S, Hattori A, Miya F, Kubota Y, Endo T, Negishi Y et al. Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation. No To Hattatsu. 2019 Jan 1;51(1):29-32. https://doi.org/10.11251/ojjscn.51.29
Yamagata, Seiya ; Hattori, Ayako ; Miya, Fuyuki ; Kubota, Yuko ; Endo, Takeshi ; Negishi, Yutaka ; Nakamura, Yuji ; Tsunoda, Tatsuhiko ; Kosaki, Kenjiro ; Saitoh, Shinji. / Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation. In: No To Hattatsu. 2019 ; Vol. 51, No. 1. pp. 29-32.
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