Migralepsy; clinical and electroencephalography findings in children

Aim: Migralepsy is a clinical entity that occasionally represents a diagnostic problem. An apparent history and clinical manifestation of migraine may mask the epileptic attack accompanying migralepsy. The aim of this study is to present our experience with clinical and electroencephalography (EEG) findings and treatment of our patients diagnosed with childhood migralepsy disease.Methods: We documented six patients who were initially followed-up with a diagnosis of migraine, subsequently observed to have epileptic seizures, and then diagnosed with migralepsy.Result: Our patients became asymptomatic by giving good responses to antiepileptic therapy based on clinical and electroencephalography (EEG) findings.Conclusions: This case series shows that EEG recording can be useful in all stages of migraine for long-term, safe monitoring. Identifying patients with possible migralepsy will enable them to receive antiepileptic treatment

White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations

The purpose of this study is to reveal the effect on the clinical phenotype of variants detected at family examination of a case of combined pogo transposable element derived with zinc finger domain (POGZ) gene, tubulin folding cofactor E (TBCE) gene, and short stature homeobox (SHOX) gene variation. A Turkish non-consanguineous family consisting of five members was investigated. Whole exome sequence analysis and chromosomal microarray analysis (CMA) were performed for a 2-year-old male patient (the proband) with global developmental delay, hypotonia, dysmorphia, and hot water epilepsy. Targeted sequence and chromosomal microarray analyses were performed for each family member. A heterozygous c.3908_3911delTCTG/p.V1303fs*6 variant was detected in the POGZ gene and a heterozygous c.626 T > G(p.L209X) variant in the TBCE gene in the proband. In addition, a gain of 0.1 MB was detected in the Xp22.33(602488-733497) x 3/Yp11.32(552488-683497) x 3 region at CMA. The SHOX (312865) gene defined in Online Mendelian Inheritance in Man is located in this region. While the proband's father and brother had heterozygous variations only in the TBCE gene, neither TBCE nor POGZ mutations were detected in the mother or sister. A gain in Xp22.33(419224-883640) x 3 was detected in the mother at CMA. Except for short stature and Madelung deformity, no phenotypical findings were detected in the mother. Other family members were also phenotypically normal. The family screening confirmed that dysmorphic findings and global developmental delay in the proband resulted from the variation in the POGZ gene, while short stature was caused by the gain in the Xp22.33(602488-733497) x 3/Yp11.32(552488-683497) x 3 region. In addition, the pathogenic POGZ gene variation in our patient may be a possible cause of hot water epilepsy. Heterozygous variation in the TBCE gene was clinically insignificant. Hot water epilepsy has not previously been reported in the rare patients with POGZ gene mutation. Additionally, in contrast to the previous literature, the proband exhibited no features of autism. It should also be remembered that posterior fossa abnormalities are frequently seen in these patients. We think that this case and family review involving POGZ and SHOX gene mutations will make a useful contribution to the existing literature.WOS:0006388097000022-s2.0-85104148950PubMed: 3383790

Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood

Hot water epilepsy (HWE) is a subtype of reflex epilepsy in which seizures are triggered by the head being immersed in hot water. Hot water or bathing epilepsy is the type of reflex epilepsy most frequently encountered in our clinic. We describe our patients with HWE and also discuss the clinical features, therapeutic approaches, and prognosis. Eleven patients (10 boys, 1 girl), aged 12 months to 13 years, admitted to the pediatric neurology clinic between January 2018 and August 2019, and diagnosed with HWE or bathing epilepsy based on International League Against Epilepsy (ILAE)-2017, were followed up prospectively for similar to 18 months. Patients' clinical and electroencephalography (EEG) findings and treatment details were noted. All 11 patients' seizures were triggered by hot water. Age at first seizure was between 2 months and 12 years. Seizure types were generalized motor seizures, absence, and atonic. EEG was normal in two patients, but nine patients had epileptiform discharges. Magnetic resonance imaging of the brain was performed and reported as normal (except in one case). Histories of prematurity were present in two patients, unprovoked seizures in one, and low birth weight and depressed birth in the other. Patients with HWE have normal neuromuscular development and neurological examination results, together with prophylaxis or seizure control with a single antiepileptic drug, suggesting that it is a self-limited reflex epilepsy.WOS:0005717922000032-s2.0-85091574351PubMed: 3229476

A novel pathogenic variant in the 3MODIFIER LETTER PRIME end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?

Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a recently described form of the large group of infantile hereditary lower motor neuron diseases (Teoh et al. 2017), resulting from biallelic damaging variants in the AGTPBP1 gene, first described by Shashi et al. in EMBO J 37(23):e100540, 2018. AGTPBP-related neurodegeneration is a severe neurodevelopmental disorder that progresses with global developmental delay and intellectual disability, often accompanied with peripheral nerve damage and lower motor degeneration and a fatal course in the early years of life. The encoded protein is ATP/GTP-Binding Protein1, also known as cytosolic carboxypeptidase 1 (CCP1) or nervous system nuclear protein induced by axotomy (NNA1). Here we report a consanguineous family with four offspring, two of whom are affected. The index patient is a 21-month-old male with global developmental delay and hypotonia. The proband's 17-year-old sister, diagnosed with cerebral palsy, had severe hypotonia accompanied by motor and cognitive retardation. WES analysis revealed a novel homozygous c.3293G > A variant in the AGTPBP1 gene with high pathogenicity scores. Targeted Sanger sequencing confirmed the variant in both affected children and in heterozygous form in the parents. The affected siblings present with hypotonia and motor and cognitive retardation, in line with the studies previously reported. However, in our patients, no signs of cerebellar atrophy in cranial MRI were present, so the acronym CONDCA is not applicable; lower motor neuron findings were also absent. The matching and distinguishing aspects of our patients will add to the present literature and expand our understanding of this rare genetic neurodegenerative disease of early childhood.Suna and Inan Kirac Foundation; Koc University School of MedicineKoc UniversityANB's research is funded by Suna and Inan Kirac Foundation and Koc University School of Medicine.WOS:0006451642000012-s2.0-85105413051PubMed: 3390917

Epilepsy and drug-resistant epilepsy in children with cerebral palsy: A retrospective observational study

Purpose: The objective of this study was to determine risk factors for epilepsy and drug-resistant epilepsy (DRE) development in children with cerebral palsy. Method: Two hundred twenty-nine patients presenting to the pediatric neurology clinic and diagnosed as having cerebral palsy between November 2016 and November 2019 were included in the study. Medical histories and clinical, laboratory, and radiological findings were examined retrospectively from patient records in the hospital data system. Results: Girls represented 103 patients (45%) and boys 126 (55%). The patients' mean age was 8.39 +/- 4.54 years. Epileptic seizures were present in 120 (52.4%) patients and drug-resistant seizures in 64 (27.9%). The risk of epilepsy was significantly higher in patients with motor or speech impairment, with hearing impairment, or undergoing first seizure in the neonatal period. We also observed a higher risk of epilepsy in patients with psychiatric comorbidity, particularly autism spectrum disorder. The risk of epilepsy was also higher in patients with microcephaly or quadriplegic cerebral palsy and in patients with focal and generalized epileptiform abnormality on electroencephalograms (EEGs). However, no significant difference was identified when all these factors were evaluated in terms of the risk of developing DRE. Conclusion: Patients with cerebral palsy have high comorbid epilepsy rates. We think that the risk of epilepsy may be higher in patients undergoing first seizure in the neonatal period, with microcephaly, with quadriplegic type cerebral palsy, and with additional psychiatric comorbidity. The rate of DRE development was very low in patients with normal EEG findings or with only background rhythm abnormalities on first EEGs during neonatal seizures. This may be regarded as a good prognostic factor for nondevelopment of DRE. (C) 2020 Elsevier Inc. All rights reserved.WOS:0005880042000312-s2.0-85089799848PubMed: 3285836

Electroencephalogram Abnormalities and Epilepsy in Autism Spectrum Disorders: Clinical and Electroencephalogram Findings

It has been known for several decades that epilepsy and autism spectrum disorders (ASD) are related to each other. Epilepsy frequently accompanies ASD. The purpose of this study was to investigate relationship between clinical and electroencephalogram (EEG) findings in ASD patients and to identify EEG characteristics that may create a disposition to epilepsy in ASD by examining differences in clinical and EEG findings between patients diagnosed with ASD without epilepsy and ASD with epilepsy. A total of 102 patients aged 2 to 18 years and diagnosed with ASD based on Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) diagnostic criteria between January 2017 and June 2019 were included in the study. Patients were assigned into two groups: (1) ASD with epilepsy and (2) ASD without epilepsy. Clinical findings were retrieved from patients' files, and EEG findings from first EEG records in the EEG laboratory at the time of diagnosis. EEG findings were defined as central, parietal, frontal, temporal, or generalized, depending on the location of rhythmic discharges. The incidence of epilepsy in our ASD patients was 33.7% and that of febrile convulsion was 4%. Generalized motor seizures were the most common seizure type. Epileptic discharges most commonly derived from the central and frontal regions. These abnormalities, especially frontal and central rhythmic discharges, may represent a precursor for the development of epilepsy in ASD patients.WOS:00071259210000

Effects of 12-month Antiepileptic Drug Use on Thyroid Functions in Children: A Retrospective Observational Study

Aim: The purpose of this study was to examine the effects of antiepileptics on thyroid function tests and to compare these effects among different antiepileptics. Materials and Methods: Two hundred and twenty patients (102 female and 118 male) aged 1-17 years indicated for antiepileptic drug (AED) therapy for epilepsy were enrolled in this study which was performed in a child neurology clinic between January 2014 and January 2018. Those patients using a single AED and with complete seizure control were included. In this study period, according to the local protocol, we measured free thyroxine (fT4) and thyroid-stimulating hormone (TSH) levels at the beginning of treatment and at the 12th month of AED therapy. Results: The mean age of the patients was 10.2 +/- 4.4 years. TSH elevation was observed in only eight patients. These eight patients' thyroid autoantibodies were negative and their thyroid ultrasonography were normal. Subclinical hypothyroidism (TSH: 5-10, fT4 normal) was present in three of these eight patients, and they were therefore not started on medication. The other five were started on L-thyroxine. Four of these were using valproic acid and one was using carbamazepine. We found no significant difference between TSH and fT4 levels measured before the start and at the 12th month of drug therapy, nor among the different AEDs used. Conclusion: AEDs have no marked effects on thyroid function, and may therefore be safely used from that perspective.WOS:00071889470000