A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression
Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2024-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2024/5539799 |
| _version_ | 1797296330185375744 |
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| author | Li Zhang Zhen-Xia Wan Jin-Yi Zhu Hui-Juan Liu Jin Sun Xiao-Hui Zou Ting Zhang Yan Li |
| author_facet | Li Zhang Zhen-Xia Wan Jin-Yi Zhu Hui-Juan Liu Jin Sun Xiao-Hui Zou Ting Zhang Yan Li |
| author_sort | Li Zhang |
| collection | DOAJ |
| description | Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs∗8) in PRRT2 is responsible for the majority of BFIS cases. In this report, we present a rare case of a girl with a confirmed clinical and genetic diagnosis of BFIS due to a frameshift heterozygous mutation in PRRT2 (c.649dupC). She exhibited typical neurodevelopment until 15 months of age, followed by an unexpected severe autistic regression. In addition to BFIS, PRRT2 mutations are also associated with paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions and paroxysmal choreoathetosis (ICCA), indicating a complex genotype-phenotype heterogeneity in PRRT2 mutations. This clinical observation highlights the possibility that BFIS patients with PRRT2 mutations may not always have a benign neurodevelopmental prognosis, emphasizing the need for long-term clinical follow-up. |
| first_indexed | 2024-03-07T22:03:04Z |
| format | Article |
| id | doaj.art-3c6751bae8d3475ca26f662182962dcc |
| institution | Directory Open Access Journal |
| issn | 2090-6811 |
| language | English |
| last_indexed | 2024-03-07T22:03:04Z |
| publishDate | 2024-01-01 |
| publisher | Hindawi Limited |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj.art-3c6751bae8d3475ca26f662182962dcc2024-02-24T00:00:01ZengHindawi LimitedCase Reports in Pediatrics2090-68112024-01-01202410.1155/2024/5539799A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic RegressionLi Zhang0Zhen-Xia Wan1Jin-Yi Zhu2Hui-Juan Liu3Jin Sun4Xiao-Hui Zou5Ting Zhang6Yan Li7Research Center for Child HealthNeonatal Intensive Care UnitAffiliated Hospital of Weifang Medical UniversityResearch Center for Child HealthDepartment of Child Health CareDepartment of Child Health CareResearch Center for Child HealthResearch Center for Child HealthBenign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs∗8) in PRRT2 is responsible for the majority of BFIS cases. In this report, we present a rare case of a girl with a confirmed clinical and genetic diagnosis of BFIS due to a frameshift heterozygous mutation in PRRT2 (c.649dupC). She exhibited typical neurodevelopment until 15 months of age, followed by an unexpected severe autistic regression. In addition to BFIS, PRRT2 mutations are also associated with paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions and paroxysmal choreoathetosis (ICCA), indicating a complex genotype-phenotype heterogeneity in PRRT2 mutations. This clinical observation highlights the possibility that BFIS patients with PRRT2 mutations may not always have a benign neurodevelopmental prognosis, emphasizing the need for long-term clinical follow-up.http://dx.doi.org/10.1155/2024/5539799 |
| spellingShingle | Li Zhang Zhen-Xia Wan Jin-Yi Zhu Hui-Juan Liu Jin Sun Xiao-Hui Zou Ting Zhang Yan Li A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression Case Reports in Pediatrics |
| title | A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression |
| title_full | A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression |
| title_fullStr | A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression |
| title_full_unstemmed | A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression |
| title_short | A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression |
| title_sort | girl with prrt2 mutation presenting with benign familial infantile seizures followed by autistic regression |
| url | http://dx.doi.org/10.1155/2024/5539799 |
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