Clinical aspects, neuroimaging, and electroencephalography of 35 cases of hemiconvulsion-hemiplegia syndrome.

INTRODUCTION: The hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare consequence of febrile seizures during childhood. It is characterized by the presence of prolonged unilateral clonic seizures occurring during febrile illness in a child less than 4years of age. Then, a flaccid unilateral hemiplegia with variable duration occurs. OBJECTIVES: The objective of the study was to describe the clinical, electroencephalogram (EEG), and neuroimaging treatment and outcome of series of cases of HHE syndrome followed for 10years in our clinical neurophysiology department of the specialty hospital of Rabat. PATIENTS AND METHODS: We report a retrospective study of 35 patients followed up for HHE syndrome from January 2005 to December 2015. All patients included in the study met the definition criteria for HHE syndrome. RESULTS: The age of onset ranged from 1 to 10years. Hemiplegia or spastic hemiparesis of the ipsilateral side to the convulsion was present in all patients. Abnormal brain magnetic resonance imaging (MRI) was found in all patients. All patients developed drug-resistant focal epilepsy during the course of the disease. CONCLUSIONS: The management of HHE syndrome constitutes a real public health problem in developing countries like Morocco. The neurological morbidity and the severe sequels are of high impact in these young kids. On the one hand, authors highlight the need for improving emergency care of status epilepticus. On the other hand, in our context, the prophylaxis of febrile seizures seems to be the corner stone of the prevention of HHE Syndrome.

Advocacy for Epilepsy Surgery in Africa: Moroccan Experience of 132 Cases.

BACKGROUND: In Africa, epilepsy is a real burden. Temporal lobe epilepsy is the most common drug-resistant focal epilepsy disorder, and temporal lobectomy is the most common effective treatment for patients with drug-resistant epilepsy. OBJECTIVE: We aim to highlight the Moroccan experience in epilepsy surgery and to ascertain its long-term outcome. Through the results of surgical treatment in our series, we hope to raise awareness of the need for epilepsy surgery in Africa and contribute to its development. METHODS: We present a retrospective study of 132 patients who underwent surgery for epilepsy from January 2005 to December 2021 at our institution. The presurgical evaluation was based on clinical screening, interictal electroencephalography, video-electroencephalography, neuropsychological tests, magnetic resonance imaging, and positron emission tomography in some cases. Data are presented as the median and ranges. For all analyses, P values <0.05 were considered statistically significant. RESULTS: Our series includes 132 patients (69 males; 52.27%); the median age at surgery was 24 years (range, 1-64). One hundred and fifteen patients (87%) were operated on for temporal lobe epilepsy, of whom 98 (85%) had anterior temporal lobectomy and 17 (15%) had lesionectomy. Seventeen patients (13%) were operated on for extratemporal epilepsy, of whom 4 had lesionectomy, 7 functional hemispherotomy, and 5 Gamma Knife stereotactic radiosurgery. Our postoperative outcomes 3 months after surgery found 113 patients (85.6%) seizure-free (Engel class I), 16 with Engel class II (12.1%), and 3 with Engel class III (2.3%) in temporal lobe epilepsy. In extratemporal lobe epilepsy, 12 patients (70.5%) showed Engel class I, seizure-free, 4 Engel class II (23.5%), and 1 Engel class III (6%). CONCLUSIONS: These results confirm that most patients with drug-resistant epilepsy may benefit from surgical treatment without submitting to preoperative invasive explorations. This finding should help develop epilepsy surgery widely in Africa.

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

Febrile seizures (FS) and temporal lobe epilepsy (TLE) were found in four of the seven siblings born to healthy Moroccan consanguineous parents. We hypothesized autosomal recessive (AR) inheritance. Combined linkage analysis and autozygosity mapping of a genome-wide single nucleotide polymorphism genotyping identified a unique identical by descent (IBD) locus of 9.6 Mb on human chromosome 8q12.1-q13.2. Sequencing of the 38 genes mapped within the linked interval revealed a homozygous missense mutation c.809C>T (p.Ala270Val) in the carboxypeptidase A6 gene (CPA6). Screening all exons of CPA6 in unrelated patients with partial epilepsy (n = 195) and FS (n = 145) revealed a new heterozygous missense mutation c.799G>A (p.Gly267Arg) in three TLE patients. Structural modeling of CPA6 indicated that both mutations are located near the enzyme's active site. In contrast to wild-type CPA6, which is secreted and binds to the extracellular matrix where it is enzymatically active, Ala270Val CPA6 was secreted at about 40% of the level of the wild-type CPA6 and was fully active, while Gly267Arg CPA6 was not detected in the medium or extracellular matrix. This study suggests that CPA6 is genetically linked to an AR familial form of FS and TLE, and is associated with sporadic TLE cases.

A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.

We describe the clinical, radiographic, and genetic features of a large consanguineous Moroccan family in which bilateral occipital polymicrogyria segregated as an autosomal recessive trait. Six affected members of the family had partial complex seizures often associated with behavioral abnormalities. On MRI, three patients had a thickened irregular cortex in the lateral occipital lobes with small gyri. A high-density genome-wide scan with 10,000 SNPs established linkage by homozygosity mapping to a 14-Mb region on chromosome 6q16-q22. Candidate genes by function (TUBE1, GRIK2, GPRC6A, GPR6, NR2E1, MICAL1, and MARCKS) in this locus were screened for mutations.

Cerebral Hemispheric Lateralization Associated with Hippocampal Sclerosis May Affect Interictal Cardiovascular Autonomic Functions in Temporal Lobe Epilepsy.

It is well established that the temporal lobe epilepsy (TLE) is linked to the autonomic nervous system dysfunctions. Seizures alter the function of different systems such as the respiratory, cardiovascular, gastrointestinal, and urogenital systems. The aim of this work was to evaluate the possible factors which may be involved in interictal cardiovascular autonomic function in temporal lobe epilepsy with complex partial seizures, and with particular attention to hippocampal sclerosis. The study was conducted in 30 patients with intractable temporal lobe epilepsy (19 with left hippocampal sclerosis, 11 with right hippocampal sclerosis). All subjects underwent four tests of cardiac autonomic function: heart rate changes in response to deep breathing, heart rate, and blood pressure variations throughout resting activity and during hand grip, mental stress, and orthostatic tests. Our results show that the right cerebral hemisphere predominantly modulates sympathetic activity, while the left cerebral hemisphere mainly modulates parasympathetic activity, which mediated tachycardia and excessive bradycardia counterregulation, both of which might be involved as a mechanism of sudden unexpected death in epilepsy patients (SUDEP).

Heterogeneous synaptic covering and differential charge transfer sensitivity among the dendrites of a reconstructed abducens motor neurone: correlations between electron microscopic and computer simulation data.

Ultrastructural studies on the synaptology of dendritic arborizations of motoneurones have been problematic because dendrites are very thin in relation to their great length, and most of the studies on this topic have therefore dealt with only small parts of the dendritic tree. Here we compared the ultrastructural characteristics of the axon terminals distributed along the various dendrites of a single motoneurone. For this purpose, the light microscopic 3D reconstruction of the dendritic arborization of an intracellularly labelled abducens motoneurone was combined with an electron microscopic analysis of its synaptic contacts. Dendritic profiles were randomly sampled along the various dendrites and the axon terminals they received were classified on the basis of their ultrastructural features and their GABA-immunoreactivity. It emerged that the various dendrites differed according to the type and local arrangement of their synaptic inputs. Our second aim was to incorporate the morphological data obtained into a model giving the charge transfer effectiveness T(x) of the dendritic sites. The sensitivity S(x) of T(x) to changes in the membrane resistivity (Rm) simulating various levels of tonic synaptic activity was calculated. It turned out that both the proximal and distal regions of the dendritic arborization have a dense synaptic covering and a weak sensitivity to changes in the Rm, whereas the intermediate dendrites have a sparse synaptic covering and a high sensitivity to changes in tonic synaptic activity. This pattern of organisation might mediate the "gating" of a population of synapses covering some dendritic regions in a state-dependent fashion.