Christelle Moufawad El Achkar

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 07 03; 6(7):e2324380. View Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. Abstract

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region. Neurol Genet. 2022 Oct; 8(5):e200018. View Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region. Abstract

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor a2 subunit. Mol Psychiatry. 2022 Mar; 27(3):1275. View Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor a2 subunit. Abstract

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor a2 subunit. Mol Psychiatry. 2022 03; 27(3):1729-1741. View Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor a2 subunit. Abstract

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. View De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Abstract

Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021 03; 89(3):573-586. View Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Abstract

Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Polymicrogyria is Associated With Pathogenic Variants in PTEN. Abstract

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia. 2020 02; 61(2):249-258. View Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Abstract

Clinical Reasoning: A 6-week-old infant with migrating focal seizures. Neurology. 2020 01 28; 94(4):178-183. View Clinical Reasoning: A 6-week-old infant with migrating focal seizures. Abstract

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. Abstract

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Brain. 2019 10 01; 142(10):3009-3027. View Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy. Abstract

Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926. View Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Abstract

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562. View De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Abstract

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678. View De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Abstract

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 10 04; 103(4):631. View A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Abstract

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 05 03; 102(5):995-1007. View A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Abstract

PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia. 2018 03; 59(3):679-689. View PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Abstract

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Abstract

Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. Epilepsy Behav Case Rep. 2019; 11:125-128. View Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. Abstract

A Model Program for Translational Medicine in Epilepsy Genetics. J Child Neurol. 2017 03; 32(4):429-436. View A Model Program for Translational Medicine in Epilepsy Genetics. Abstract

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. Abstract

SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. J Pediatr Epilepsy. 2016 Mar; 5(1):42-46. View SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital. Abstract

The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39. View The genetics of the epilepsies. Abstract

Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015 Jun; 47:183-90. View Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Abstract

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. Ann Neurol. 2014 Oct; 76(4):581-93. View Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. Abstract

PRRT2-Associated Paroxysmal Movement Disorders. GeneReviews®. 1993. View PRRT2-Associated Paroxysmal Movement Disorders Abstract