Development of Acute Encephalopathy Due to Vigabatrin Use in a Case of Nonketotic Hyperglycinemia

A 3-month-old boy with early myoclonic epilepsy owing to nonketotic hyperglycinemia developed acute encephalopathy after - vigabatrin was presented. Due to the use of vigabatrin, the elevated gamma-aminobutyric acid (GABA) concentration in the brain together with the elevated levels of glycine enhanced the encephalopathy. Our observations indicate the risk of using vigabatrin in patients with nonketotic hyperglycinemia

Risk factors associated with epilepsy development in children with cerebral palsy

ObjectivesEpilepsy is one of the most common and important comorbidity among patients with cerebral palsy (CP). The purpose of this study was to determine the risk factors predicting the development of epilepsy considering prenatal, perinatal, and natal characteristics; associated impairments; and cranial imaging findings in our patient population with cerebral palsy at a tertiary center in Istanbul, Turkey.MethodsThis retrospective study consisted of 234 children aged between 3 and 18years of age. Children were divided into two groups as CP patients with epilepsy (126 patients) and CP patients without epilepsy (108 patients). Demographic features and clinical and cranial magnetic resonance imaging (cMRI) findings were compared between the two groups.ResultsPresence of family history of epilepsy, history of neonatal seizure especially in the first 72h of life, quadriplegic type of CP, severe degree of gross motor function and fine motor disorders, and moderate to severe mental retardation or psycho-social developmental delay were determined as risk factors for the development of epilepsy in CP patients. Also, an increased risk of epilepsy was detected in term infants and appropriate for gestational age (2500-4000g) infants. On the other hand, presence of parental consanguinity, being born from a primiparous mother, age of mother at birth, mode of delivery, presence of multiple gestation and labor problems, history of follow-up in neonatal intensive care unit and intubation, and cMRI findings were not significant risk factors for the development of epilepsy in CP.ConclusionPredicting epilepsy development by determining the risk factors in patients with CP might be useful because knowing the risk factors could provide close follow-up of these patients for epilepsy

The GABA(A) receptor gamma y2 subunit (R43Q) mutation in febrile seizures

WOS: 000333866200016PubMed ID: 24630281BACKGROUND: Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the importance of the mutations of the gamma-aminobutyric acid A receptor as the etiology of the febrile seizures. R43Q mutation affecting the gamma 2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure. METHODS: We investigated R43Q mutations of the GABRG2 gene, located on the long arm of chromosome 5 encoding the gamma 2-subunit of the gamma-aminobutyric acid A receptor. We studied 44 patients with febrile seizure and 49 children without any febrile seizure who were admitted to our clinic. RESULTS: We found that 36% of our patient group, the children who experienced febrile convulsions, had heterozygous R43Q mutation. Statistical studies revealed that heterozygous R43Q mutation of gamma-aminobutyric acid A receptor gamma 2 subunit was higher in the study group than in the control group (P < 0.01). CONCLUSIONS: Heterozygous gamma-aminobutyric acid A receptor gamma 2 subunit (R43Q) mutation may have an effect in the development of febrile seizures

Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease

Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). The associated clinical findings confirm and extend previous descriptions. Considering all patients reported to date, we provide supporting evidence suggesting that ASCC1-related disease has a more severe phenotype compared to TRIP4-related disorder regarding higher incidence of perinatal bone fractures and shorter survival