Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation.

Pathogenic variants in COL4A1, encoding the α chain of type IV collagen, have been associated with cerebrovascular pathology as well as malformations of cortical development, thereby causing structural epilepsy. This case illustrates successful resective epilepsy surgery in a 12-month-old girl with left occipital focal cortical dysplasia (FCD) associated with a heterozygous splice-donor variant in COL4A1. She presented with drug-resistant focal epilepsy with daily seizures from the age of 2 months, refractory to several combinations of antiseizure medications, as well as mild right-sided hemiparesis and developmental delay. All presurgical diagnostic modalities, including ictal and interictal electroencephalography, magnetic resonance imaging, and ictal fluorodeoxyglucose positron emission tomography, showed congruent findings, pointing toward one single left occipital epileptogenic zone (EZ). We performed a left occipital lobectomy, using intraoperative electrocorticography to confirm the boundaries of the EZ. After surgery, the patient has remained seizure free, and both cognitive and motor developments have improved. Histopathology of the resected brain tissue showed FCD type Ia. Resective epilepsy surgery can have a very good outcome, also in patients with genetic mutations in COL4A1, constituting a less invasive option than the previously used more radical surgical procedures such as hemispherectomy.

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far. We collected detailed genetic and phenotypic data of 40 previously unreported patients from 36 families. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2. The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. In addition to known variants, we report the novel variant c.843G>T, p.(Trp281Cys) that co-segregated with benign infantile epilepsy and migraine in one family. Our study highlights the variability of clinical presentations of patients harboring pathogenic PRRT2 variants and expands the associated phenotypic spectrum.

Associations of diet and lifestyle with headache in high-school students: results from a cross-sectional study.

BACKGROUND: Diet and lifestyle are seen as factors which influence headache in adults. However, population-based studies on this issue in adolescents are rare. OBJECTIVE: Aim of the present study was to investigate associations between diet and lifestyle factors and different types of headache, ie, migraine and tension-type headache (TTH) in adolescents. METHODS: A total of 1260 adolescents from the 10th and 11th grades of high schools filled in questionnaires on intake of meals, coffee, nonalcoholic and alcoholic drinks, smoking, and physical activity. Type of headache was classified according to the International Classification of Headache Disorders - 2nd edition. Multiple logistic regression models, adjusted for sex and grade, were calculated. RESULTS: High consumption of cocktails (odds ratio = 3.4; 95% confidence interval 1.9-6.0) and coffee (2.4; 1.3-4.7), smoking (2.7; 1.4-5.1), and lack of physical activity (2.2; 1.3-3.7) were significantly associated with migraine plus TTH episodes, consumption of coffee and physical inactivity particularly with migraine (3.4; 1.6-7.0 and 4.2; 2.2-7.9, respectively) and physical inactivity with TTH (1.7; 1.1-2.7). Skipping of meals or insufficient fluid intake were not associated with any type of headache. CONCLUSIONS: Adolescents with any type of headache might benefit from regular physical activity and low consumption of alcoholic drinks, while for migraine patients a low consumption of coffee should additionally be recommended. Intervention studies are warranted to assess whether psycho-educational programs conferring knowledge of these associations will influence headache-triggering behavior and headache in adolescents.