Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients
Abstract Background Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. Objective To describe the clinical and genetic features of hyperekplexia in Jordanian patients. Method...
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Published in | Brain & development (Tokyo. 1979) Vol. 39; no. 4; pp. 306 - 311 |
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Format | Journal Article |
Language | English |
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01.04.2017
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Abstract | Abstract Background Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. Objective To describe the clinical and genetic features of hyperekplexia in Jordanian patients. Methods This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015. Results A total of 16 children from 12 families were included. The total follow up period ranged from one to eleven years. The majority of the patients (13/16 = 81.3%) were initially misdiagnosed as epilepsy. All patients had excessive startle response since birth. Tonic–apneic spells occurred in 15/16 = 93.8% patients. Fourteen patients (45/16 = 87.5%) received clonazepam. Stopping clonazepam by three years of age failed in 11/14 (78.6%) due to reappearance of tonic–apneic spells (8/14 = 57.1%), recurrent falling (10/14 = 71.4%) or due to both reasons (5/14 = 35.7%). Delayed motor development occurred in 7/16 (43.8%), speech delay in 4/16 (25.0%), global developmental delay in 1/16 (6.3%), and autism spectrum disorder in 1/16 (6.3%) patient. The mode of inheritance is autosomal recessive in all 12/12 (100%) families. Mutations in GLRA1 gene was present in 9/16 (56.3%); the most common mutation was in p.G254D (4/9; 44.5%). Mutations in the GLRB gene was present in 4/16 (25.0%) patients and the SLC6A5 gene in 3/16 (18.8%) patients. Conclusion The clinical presentation of hyperekplexia in Jordanian patients is manifested by tonic–apneic spells in all homozygous patients. The persistence of apneic spells and recurrent falls throughout childhood necessitate continuous treatment and surveillance. |
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AbstractList | BACKGROUNDHyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern.OBJECTIVETo describe the clinical and genetic features of hyperekplexia in Jordanian patients.METHODSThis retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015.RESULTSA total of 16 children from 12 families were included. The total follow up period ranged from one to eleven years. The majority of the patients (13/16=81.3%) were initially misdiagnosed as epilepsy. All patients had excessive startle response since birth. Tonic-apneic spells occurred in 15/16=93.8% patients. Fourteen patients (45/16=87.5%) received clonazepam. Stopping clonazepam by three years of age failed in 11/14 (78.6%) due to reappearance of tonic-apneic spells (8/14=57.1%), recurrent falling (10/14=71.4%) or due to both reasons (5/14=35.7%). Delayed motor development occurred in 7/16 (43.8%), speech delay in 4/16 (25.0%), global developmental delay in 1/16 (6.3%), and autism spectrum disorder in 1/16 (6.3%) patient. The mode of inheritance is autosomal recessive in all 12/12 (100%) families. Mutations in GLRA1 gene was present in 9/16 (56.3%); the most common mutation was in p.G254D (4/9; 44.5%). Mutations in the GLRB gene was present in 4/16 (25.0%) patients and the SLC6A5 gene in 3/16 (18.8%) patients.CONCLUSIONThe clinical presentation of hyperekplexia in Jordanian patients is manifested by tonic-apneic spells in all homozygous patients. The persistence of apneic spells and recurrent falls throughout childhood necessitate continuous treatment and surveillance. Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. To describe the clinical and genetic features of hyperekplexia in Jordanian patients. This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015. A total of 16 children from 12 families were included. The total follow up period ranged from one to eleven years. The majority of the patients (13/16=81.3%) were initially misdiagnosed as epilepsy. All patients had excessive startle response since birth. Tonic-apneic spells occurred in 15/16=93.8% patients. Fourteen patients (45/16=87.5%) received clonazepam. Stopping clonazepam by three years of age failed in 11/14 (78.6%) due to reappearance of tonic-apneic spells (8/14=57.1%), recurrent falling (10/14=71.4%) or due to both reasons (5/14=35.7%). Delayed motor development occurred in 7/16 (43.8%), speech delay in 4/16 (25.0%), global developmental delay in 1/16 (6.3%), and autism spectrum disorder in 1/16 (6.3%) patient. The mode of inheritance is autosomal recessive in all 12/12 (100%) families. Mutations in GLRA1 gene was present in 9/16 (56.3%); the most common mutation was in p.G254D (4/9; 44.5%). Mutations in the GLRB gene was present in 4/16 (25.0%) patients and the SLC6A5 gene in 3/16 (18.8%) patients. The clinical presentation of hyperekplexia in Jordanian patients is manifested by tonic-apneic spells in all homozygous patients. The persistence of apneic spells and recurrent falls throughout childhood necessitate continuous treatment and surveillance. Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. To describe the clinical and genetic features of hyperekplexia in Jordanian patients. This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015. A total of 16 children from 12 families were included. The total follow up period ranged from one to eleven years. The majority of the patients (13/16=81.3%) were initially misdiagnosed as epilepsy. All patients had excessive startle response since birth. Tonic–apneic spells occurred in 15/16=93.8% patients. Fourteen patients (45/16=87.5%) received clonazepam. Stopping clonazepam by three years of age failed in 11/14 (78.6%) due to reappearance of tonic–apneic spells (8/14=57.1%), recurrent falling (10/14=71.4%) or due to both reasons (5/14=35.7%). Delayed motor development occurred in 7/16 (43.8%), speech delay in 4/16 (25.0%), global developmental delay in 1/16 (6.3%), and autism spectrum disorder in 1/16 (6.3%) patient. The mode of inheritance is autosomal recessive in all 12/12 (100%) families. Mutations in GLRA1 gene was present in 9/16 (56.3%); the most common mutation was in p.G254D (4/9; 44.5%). Mutations in the GLRB gene was present in 4/16 (25.0%) patients and the SLC6A5 gene in 3/16 (18.8%) patients. The clinical presentation of hyperekplexia in Jordanian patients is manifested by tonic–apneic spells in all homozygous patients. The persistence of apneic spells and recurrent falls throughout childhood necessitate continuous treatment and surveillance. Abstract Background Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. Objective To describe the clinical and genetic features of hyperekplexia in Jordanian patients. Methods This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015. Results A total of 16 children from 12 families were included. The total follow up period ranged from one to eleven years. The majority of the patients (13/16 = 81.3%) were initially misdiagnosed as epilepsy. All patients had excessive startle response since birth. Tonic–apneic spells occurred in 15/16 = 93.8% patients. Fourteen patients (45/16 = 87.5%) received clonazepam. Stopping clonazepam by three years of age failed in 11/14 (78.6%) due to reappearance of tonic–apneic spells (8/14 = 57.1%), recurrent falling (10/14 = 71.4%) or due to both reasons (5/14 = 35.7%). Delayed motor development occurred in 7/16 (43.8%), speech delay in 4/16 (25.0%), global developmental delay in 1/16 (6.3%), and autism spectrum disorder in 1/16 (6.3%) patient. The mode of inheritance is autosomal recessive in all 12/12 (100%) families. Mutations in GLRA1 gene was present in 9/16 (56.3%); the most common mutation was in p.G254D (4/9; 44.5%). Mutations in the GLRB gene was present in 4/16 (25.0%) patients and the SLC6A5 gene in 3/16 (18.8%) patients. Conclusion The clinical presentation of hyperekplexia in Jordanian patients is manifested by tonic–apneic spells in all homozygous patients. The persistence of apneic spells and recurrent falls throughout childhood necessitate continuous treatment and surveillance. |
Author | Chung, Seo-Kyung Rees, Mark I Masri, Amira |
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CitedBy_id | crossref_primary_10_1136_bcr_2020_236152 crossref_primary_10_1016_j_jns_2020_117051 crossref_primary_10_1007_s00702_018_1924_y crossref_primary_10_1002_mds_28058 crossref_primary_10_1016_j_pediatrneurol_2022_06_015 crossref_primary_10_3988_jcn_2020_16_2_230 crossref_primary_10_1111_ejn_14533 crossref_primary_10_1016_j_pharmthera_2020_107785 crossref_primary_10_1097_MD_0000000000019968 |
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Keywords | Misdiagnosis Nose tap Consanguinity Apnea Jordan Hyperekplexia |
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Snippet | Abstract Background Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in... Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and... BACKGROUNDHyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal... |
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SubjectTerms | Adolescent Apnea Child Child, Preschool Consanguinity Diagnostic Errors Epilepsy - diagnosis Female Follow-Up Studies Genotype Glycine Plasma Membrane Transport Proteins - genetics Humans Hyperekplexia Hyperekplexia - diagnosis Hyperekplexia - genetics Hyperekplexia - physiopathology Hyperekplexia - therapy Infant Infant, Newborn Jordan Male Misdiagnosis Neurology Nose tap Phenotype Receptors, Glycine - genetics Retrospective Studies Young Adult |
Title | Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients |
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