PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

Akihisa Okumura, Keiko Shimojima, Hirokazu Kurahashi, Shingo Numoto, Shino Shimada, Atsushi Ishii, Iori Ohmori, Satoru Takahashi, Tomonari Awaya, Tetsuo Kubota, Takafumi Sakakibara, Naoko Ishihara, Ayako Hattori, Hiroyuki Torisu, Jun Tohyama, Takeshi Inoue, Akiko Haibara, Takuji Nishida, Yukihiro Yuhara, Kazushi MiyaRyuta Tanaka, Shinichi Hirose, Toshiyuki Yamamoto

Research output: Contribution to journalArticle

Abstract

Purpose: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. Methods: The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct sequencing method: 92 patients had BIE alone, 25 had both BIE and PKD, and 18 had PKD alone. Of the cases, 105 were familial, and 30 were sporadic. Clinical information was collected using a structured questionnaire. Results: PRRT2 mutations were identified in 104 patients. Among the familial cases, PRRT2 mutations were found in at least one individual in 21 of 28 families with BIE alone, in 26 of 27 families with infantile convulsions and choreoathetosis, and in 2 of 3 families with PKD alone. Among the sporadic cases, PRRT2 mutations were observed in 7 of 25 patients with BIE alone, in 1 of 1 patient with BIE and PKD, and in 3 of 4 patients with PKD alone. The c.649dupC mutation was the most frequent, followed by the c.981C > G mutation. Among the patients with epilepsy, the median age at BIE onset was 5 months, the median age at the last seizure was 6 months, and the median number of seizures was 5. Conclusion: PRRT2 mutations were found in 68% of Japanese probands with BIE or PKD. The phenotypes of BIE associated with PRRT2 mutations were consistent with those of BIE diagnosed clinically.

Original languageEnglish
Pages (from-to)1-5
Number of pages5
JournalSeizure
Volume71
DOIs
Publication statusPublished - Oct 1 2019

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Epilepsy
Mutation
Seizures
Familial paroxysmal dystonia
Phenotype

Keywords

  • Benign infantile epilepsy
  • Convulsion with gastroenteritis
  • Febrile seizures
  • Paroxysmal kinesigenic dyskinesia
  • PRRT2

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Okumura, A., Shimojima, K., Kurahashi, H., Numoto, S., Shimada, S., Ishii, A., ... Yamamoto, T. (2019). PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. Seizure, 71, 1-5. https://doi.org/10.1016/j.seizure.2019.05.017

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. / Okumura, Akihisa; Shimojima, Keiko; Kurahashi, Hirokazu; Numoto, Shingo; Shimada, Shino; Ishii, Atsushi; Ohmori, Iori; Takahashi, Satoru; Awaya, Tomonari; Kubota, Tetsuo; Sakakibara, Takafumi; Ishihara, Naoko; Hattori, Ayako; Torisu, Hiroyuki; Tohyama, Jun; Inoue, Takeshi; Haibara, Akiko; Nishida, Takuji; Yuhara, Yukihiro; Miya, Kazushi; Tanaka, Ryuta; Hirose, Shinichi; Yamamoto, Toshiyuki.

In: Seizure, Vol. 71, 01.10.2019, p. 1-5.

Research output: Contribution to journalArticle

Okumura, A, Shimojima, K, Kurahashi, H, Numoto, S, Shimada, S, Ishii, A, Ohmori, I, Takahashi, S, Awaya, T, Kubota, T, Sakakibara, T, Ishihara, N, Hattori, A, Torisu, H, Tohyama, J, Inoue, T, Haibara, A, Nishida, T, Yuhara, Y, Miya, K, Tanaka, R, Hirose, S & Yamamoto, T 2019, 'PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia', Seizure, vol. 71, pp. 1-5. https://doi.org/10.1016/j.seizure.2019.05.017
Okumura, Akihisa ; Shimojima, Keiko ; Kurahashi, Hirokazu ; Numoto, Shingo ; Shimada, Shino ; Ishii, Atsushi ; Ohmori, Iori ; Takahashi, Satoru ; Awaya, Tomonari ; Kubota, Tetsuo ; Sakakibara, Takafumi ; Ishihara, Naoko ; Hattori, Ayako ; Torisu, Hiroyuki ; Tohyama, Jun ; Inoue, Takeshi ; Haibara, Akiko ; Nishida, Takuji ; Yuhara, Yukihiro ; Miya, Kazushi ; Tanaka, Ryuta ; Hirose, Shinichi ; Yamamoto, Toshiyuki. / PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. In: Seizure. 2019 ; Vol. 71. pp. 1-5.
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abstract = "Purpose: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. Methods: The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct sequencing method: 92 patients had BIE alone, 25 had both BIE and PKD, and 18 had PKD alone. Of the cases, 105 were familial, and 30 were sporadic. Clinical information was collected using a structured questionnaire. Results: PRRT2 mutations were identified in 104 patients. Among the familial cases, PRRT2 mutations were found in at least one individual in 21 of 28 families with BIE alone, in 26 of 27 families with infantile convulsions and choreoathetosis, and in 2 of 3 families with PKD alone. Among the sporadic cases, PRRT2 mutations were observed in 7 of 25 patients with BIE alone, in 1 of 1 patient with BIE and PKD, and in 3 of 4 patients with PKD alone. The c.649dupC mutation was the most frequent, followed by the c.981C > G mutation. Among the patients with epilepsy, the median age at BIE onset was 5 months, the median age at the last seizure was 6 months, and the median number of seizures was 5. Conclusion: PRRT2 mutations were found in 68{\%} of Japanese probands with BIE or PKD. The phenotypes of BIE associated with PRRT2 mutations were consistent with those of BIE diagnosed clinically.",
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T1 - PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

AU - Okumura, Akihisa

AU - Shimojima, Keiko

AU - Kurahashi, Hirokazu

AU - Numoto, Shingo

AU - Shimada, Shino

AU - Ishii, Atsushi

AU - Ohmori, Iori

AU - Takahashi, Satoru

AU - Awaya, Tomonari

AU - Kubota, Tetsuo

AU - Sakakibara, Takafumi

AU - Ishihara, Naoko

AU - Hattori, Ayako

AU - Torisu, Hiroyuki

AU - Tohyama, Jun

AU - Inoue, Takeshi

AU - Haibara, Akiko

AU - Nishida, Takuji

AU - Yuhara, Yukihiro

AU - Miya, Kazushi

AU - Tanaka, Ryuta

AU - Hirose, Shinichi

AU - Yamamoto, Toshiyuki

PY - 2019/10/1

Y1 - 2019/10/1

N2 - Purpose: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. Methods: The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct sequencing method: 92 patients had BIE alone, 25 had both BIE and PKD, and 18 had PKD alone. Of the cases, 105 were familial, and 30 were sporadic. Clinical information was collected using a structured questionnaire. Results: PRRT2 mutations were identified in 104 patients. Among the familial cases, PRRT2 mutations were found in at least one individual in 21 of 28 families with BIE alone, in 26 of 27 families with infantile convulsions and choreoathetosis, and in 2 of 3 families with PKD alone. Among the sporadic cases, PRRT2 mutations were observed in 7 of 25 patients with BIE alone, in 1 of 1 patient with BIE and PKD, and in 3 of 4 patients with PKD alone. The c.649dupC mutation was the most frequent, followed by the c.981C > G mutation. Among the patients with epilepsy, the median age at BIE onset was 5 months, the median age at the last seizure was 6 months, and the median number of seizures was 5. Conclusion: PRRT2 mutations were found in 68% of Japanese probands with BIE or PKD. The phenotypes of BIE associated with PRRT2 mutations were consistent with those of BIE diagnosed clinically.

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KW - Benign infantile epilepsy

KW - Convulsion with gastroenteritis

KW - Febrile seizures

KW - Paroxysmal kinesigenic dyskinesia

KW - PRRT2

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