Rufinamide in children and adults with Lennox-Gastaut syndrome: first Italian multicenter experience

This is the first multicenter Italian experience with rufinamide as an adjunctive drug in children, adolescents and adults with Lennox-Gastaut syndrome. The patients were enrolled in a prospective, add-on, open-label treatment study from 11 Italian centers for children and adolescent epilepsy care. Forty-three patients (26 males, 17 females), aged between 4 and 34 years (mean 15.9 ± 7.3, median 15.0), were treated with rufinamide for a mean period of 12.3 months (range 3-21 months). Twenty patients were diagnosed as cryptogenic and 23 as symptomatic. Rufinamide was added to the baseline therapy at the starting dose of 10mg/kg body weight, evenly divided in two daily doses and then increased…

Resolution of enuresis with aripiprazole in children with psychiatric disorders: two case reports

Abstract Background Aripiprazole is a third-generation atypical antipsychotic drug that acts as a stabilizer of the dopaminergic and serotonergic system. As partial agonist of the dopamine (D2) and serotonin (5-HT1A) receptors, it appears to be effective in reducing mania in patients with bipolar disorder, tics in Tourette Syndrome, aggression in schizophrenia and autism spectrum disorder. Enuresis has been reported among its side effects. Only a few studies, with conflicting results, have investigated the relationship between aripiprazole and enuresis. Case presentation We report the disappearance of enuresis in a Caucasian girl with intellectual disability and oppositional defiant disorde…

Efficacy And Tolerability of Acetazolamide in Migraine Prophylaxis and Klinefelter Syndrome: A Case Report

P390 Efficacy and Tolerability of Acetazolamide in Migraine Prophylaxis and Klinefelter Syndrome: A Case Report R. Nardello1, P. Glorioso1, M. Saladino1, M. Moscarelli1, A. Fontana1, S. Mangano1 1Dipartimento di Scienze per la Promozione della Salute e Materno Infantile ‘‘G. D’Alessandro’’, University of Palermo, Palermo, PA, Italy. Objectives: We describe an interesting case of migraine headaches with aura in a 47, XXY male Klinefelter Syndrome (KS) intreatment with Acetazolamide and resolutionof symptoms. Background: A 16-year-old boy presented to the outpatient clinic migraine headaches throbbing, onset evening that lasts for a week and is presented once a month with aura, associated wit…

Monosomia parziale 4p e trisomia parziale 22q: quadro elettroclinico

Headache and epilepsy:two cronic disorders with clinical comorbidity

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Non-invasive Brain Stimulation in Pediatric Migraine: A Perspective From Evidence in Adult Migraine

Pediatric migraine remains still a challenge for the headache specialists as concerns both diagnostic and therapeutic aspects. The less ability of children to describe the exact features of their migraines and the lack of reliable biomarker for migraine contribute to complicate the diagnostic process. Therefore, there's need for new effective tools for supporting diagnostic and therapeutic approach in children with migraine. Recently, promising results have been obtained in adult headache by means of application of neurostimulation techniques both for investigating pathophysiological mechanisms and also for therapeutical applications. Non-invasive brain stimulation (NIBS) techniques like tr…

Alexithymic characteristics in pediatric patients with primary headache: a comparison between migraine and tension-type headache

Background: Alexithymia is a personality construct characterized by difficulties in verbal emotional expression and a limited ability to use one’s imagination. Evidence of alexithymic characteristics was found in adults suffering from headache, while little is known about children. The aim of this study was to establish the prevalence of alexithymia in two different subgroups of children and adolescents suffering from primary headache. We also looked for correlation between alexithymia in children and in their mothers. Methods: This study involved 89 participants: 47 (11 males, 36 females, aged 8 to 17 years) suffering from tension-type headache (TTH), and 42 (18 males, 24 females, aged 8 t…

Spasmi infantili e Malattia di Krabbe: descrizione di un caso clinico

Early behavioural phenotype in a child with inv dup (15)

Epilessia e disurbi psichiatrici in un soggetto con ipoplasia cerebellare

Hyperekplexia caused by dominant-negative suppression of glyra1 function.

Hyperekplexia (HE; startle disease; OMIM#149400) is a rare inheritable neurologic disorder characterized by an exaggerated response to sudden stimuli, muscular rigidity, and hyperreflexia, leading to chronic injuries due to unprotected falls. All symptoms are present at birth but gradually decline during the first year of life, although an exaggerated startle response remains during adulthood.1 Dysfunctional inhibitory neurotransmission by glycine (Gly) plays a central role in HE pathogenesis. All patients with HE carry mutations in genes encoding either for α1 (GLYRA1) or β (GLYRB) Gly receptor subunits, presynaptic Gly transporters (SLC6A5), or proteins involved in Gly receptor (GLYR) clu…

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2…

Additional file 1 of A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Additional file 1: Detailed information about genetic tests.

Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome

Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome of idiopathic generalized epilepsies with onset below 3 years of age. It has been reported that BMEI is associated with a good prognosis, however, recently some studies suggest less favourable neuropsychological outcome. We report a long-term follow-up of seven patients with BMEI. Seizure outcome and neuropsychological, cognitive, and behavioural evolution were discussed for each of them. At the end of follow-up, 86% of children showed neuropsychological and intellectual disorders: two children had mental retardation, three patients achieved a borderline IQ and one normal but low IQ. All but one displayed neuropsychological disa…

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

International audience; Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromo…

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.

Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Regarding the paucity of data in the literature, we describe the presented case with a view to further establishing: (1) a genotype/phenotype correlation in order to define a BFNE phenotype associated with favourable outcome; (2) a…

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. By contrast, only few KCNQ3 mutations have been rarely described, mostly in patients with typical BFNS. We report clinical, genetic, and functional data from a family in which early onset epilepsy and neurocognitive deficits segregated with a novel mutation in KCNQ3 (c.989G>T; p.R330L). Electrophysiological stu…

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? is an age-dependent epilepsy with onset peak in the first year of life. According to the ILAE classification, the etiology of WS could be symptomatic or cryptogenic. An idiopathic etiology was considered too. In literature, there was never previously described a transition from WS to JME. Methods: The proband, (male) was referred to our Department at the age of 8 months because he showed clusters of symmetric spasms. Interictal EEG recording displayed an hypsarrhythmic pattern. The clinical and EEG data suggested WS diagnosis. At 1 year of age increasing long and thick hair in both elbow regions was observed. …

Adaptive strategy and High level Planning in the E-MIP Architecture

Ritardo di linguaggio secondario a regressione precoce di origine epilettica.

Sexual Abuse-Current Medico-legal, Forensic and Psychiatric Aspects

Abstract Violence against women and minors is a worldwide problem that has not yet been sufficiently acknowledged. There are many obstacles especially when sexual abuses have to be evaluated. These problems are present both when victims of sexual abuse are evaluated and when sex offenders are dealt with, especially when the offenders are juvenile sex offenders (JSO). These issues give cause for great concern about prognosis, and the resulting psychosocial implications, and call for a special effort from the scientific community in identifying appropriate prevention and treatment methods. This chapter is divided into two parts. The first part deals with the forensic and psychiatric features,…

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

Background: West syndrome is an age-dependent epilepsy with onset peak in the first year of life whose aetiology may be symptomatic or cryptogenic. Long-term cognitive and neurological prognosis is usually poor and seizure outcome is also variable. Over the past two decades a few patients with favourable cognitive outcome and with total recovery from seizures were identified among the cryptogenic group suggesting an idiopathic aetiology. Recent research has described two children with idiopathic WS who later developed a childhood absence epilepsy. Case presentation: We reviewed the medical records of patients with West syndrome admitted to the our Child Neuropsychiatry Unit in the last 15 y…

IL LEVETIRACETAM IN MONOTERAPIA NEL TRATTAMENTO DELL’ EPILESSIA FARMACORESISTENTE IN UNA PAZIENTE CON SINDROME DI RETT

Benign nocturnal alternating hemiplegia of childhood

Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability

Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly (MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells. We report a clinical feature, electroclinical findings, and clinical course of a patient with a severe phenotype of MCPH2 including microcephaly, refractory infantile spas…

EFFICACIA DEL SULTHIAME NEL TRATTAMENTO DI CRISI FOCALI FARMACORESISTENTI IN UN SOGGETTO CON SCLEROSI TUBEROSA

Interfaccia tra disturbi del comportamento e disturbi dell’apprendimento.

Ansia e depressione in bambini e adolescenti con epilessia del lobo frontale e temporale: risultati preliminari di uno studio caso-controllo

Zonisamide in children and young adults with refractory epilepsy: an open label, multicenter Italian study

Summary Purpose To report on the first multicenter Italian experience with zonisamide as an add-on drug for refractory generalised or partial epilepsy in children, adolescents and young adults. Methods The patients were enrolled in a prospective, add-on, open-label treatment study from eight Italian centres for children and adolescent epilepsy care. Eighty-two young patients (45 males, 37 females), aged between 3 and 34 years (mean 13.1 years), all affected by partial (47) or generalised (35) refractory epilepsy, were enrolled in the study. ZNS was added to the baseline therapy at a starting dose of 1 mg/kg/day twice daily. This dose was increased by 2 mg/kg every 1–2 weeks over a period of…

Efficacia del Sulthiame nel trattamento di crisi focali farmacoresistenti in un soggetto con Sclerosi Tuberosa

The Graham Bank (Sicily Channel, central Mediterranean Sea). Seafloor signatures of volcanic and tectonic controls

Abstract Graham Bank is a dominant physiographic element of the NW Sicily Channel (central Mediterranean Sea), affected in the last 100 years by numerous well-documented volcanic eruptions. We present the first results of a geomorphological study where the Graham Bank region in the depth interval 7–350 m was mapped for the first time with multi-beam echosounder and high-resolution seismic and multi-channel seismic reflection profiles. We describe in high resolution the detailed geomorphological features of Graham Bank, and how the superficial expression of different process and dynamics occurring in the sub-seafloor evidence volcanic and tectonic controls on seafloor morphology across a rel…

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

Abstract Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder including developmental delay/intellectual disability (DD/ID), hypertrichosis cubiti, short stature, and distinctive facial features, caused by mutation in KMT2A gene, which encodes a histone methyltransferase (H3K4) that regulates chromatin-mediated transcription. Different neurodevelopmental phenotypes have been described within the WDSTS spectrum, including a peculiar Autism Spectrum Disorder (ASDs) subtype in some affected individuals. Here, we report a 9-year-old Caucasian male found by next-generation panel sequencing to carry a novel heterozygous de novo KMT2A frameshift variant (NM_001197104.2:c.4433delG; p. Arg1…

Valutazione dell’efficacia e della tollerabilità del sulthiame in bambini con epilessia farmacoresistente: osservazioni preliminari

La progettazione e valutazione dell’intervento riabilitativo

Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings

Abstract It has been described a neuro developmental disorder labelled “Benign nocturnal alternating hemiplegia of childhood” (BNAHC) characterized by recurrent attacks of nocturnal hemiplegia without progression to neurological or intellectual impairment. We report a female patient who at 11 months revealed a motionless left arm, unusual crying without impairment of consciousness and obvious precipitating factors. The attacks occur during sleep in the early morning with lack of ictal and interictal electroencephalographic abnormalities, progressive neurological deficit, and cognitive impairment. Unlike previous reports of BNAHC our patient come from a family with a history of both migraine…

Non-convulsive status epilepticus associated with tiagabine in a pediatric patient

We report a 4-year-old patient who developed non-convulsive status epilepticus (NCSE) following tiagabine (TGB) as add-on treatment for refractory partial seizures. NCSE occurred while the patient received TGB 0.83mg/kg/day. In our case, the TGB reduction led to a significant improvement of electroclinical features. The mechanisms of this abnormal effect are not clear. GABA-ergic hyperfunction and/or multiplicity of interlinked brain GABA systems associated with individual specific sensitivity could play a critical role in the pathogenesis of NCSE. This is the first report of NCSE documented by electroencephalogram (EEG) in a child under 12 years of age on TGB treatment. © 2003 Elsevier Sci…

Migraine in children under 6 years of age: A long-term follow-up study

Abstract Background Early starting of migraine seems predictive for less favorable outcome in later ages, however follow-up investigations are very few and all with short-term prospective period. We report here the longest follow-up study in a population of children presenting with migraine under the age of 6. Methods We followed-up 74 children under 6 years of age, referred for headache to our department between 1997 and 2003. The study was carried out between October 2016 and March 2018. Headache diagnoses were made according to the IHS criteria. Results 23/74 patients, 31% of the original cohort, were found at follow-up in a period ranging between 15 to 21 years after the first visit. Se…

Crisi gelastiche: analisi clinica e video-EEG di un caso pediatrico con focolaio frontale

Oloprosencefalia semilobare: aspetti elettroencefalografici

oloprosoencefalia,

Benign nocturnal alternating hemiplegia of chilhood: A new case

Levetiracetam during 1-year follow-up in children, adolescents, and young adults with refractory epilepsy

Purpose: To evaluate the efficacy and safety of levetiracetam (LEV) in refractory crypto/symptomatic, partial or generalised epilepsy in children, adolescents and young adults. Methods: We performed a prospective open label add-on study in 99 patients (age 12 months to 32 years, mean 14 years) with partial or generalised, crypto/symtpomatic seizures. Levetiracetam was added to no more than two baseline AEDs and the efficacy was rated according to seizure type and frequency. Results: LEV was initiated at the starting dose of 10 mg/kg/day with 5-day increments up to 50 mg/kg/day, unless it was not tolerated. Concomitant therapy was generally not modified throughout the study. After a mean fol…

A new case of Worster-Drought syndrome

Introduction: Worster-Drought syndrome (WDS) consists of a congenital pseudobulbar palsy and is usually associated with spastic tetraplegia, learning impairment, behavioural problems, and epilepsy. Congenital bilateral perisylvian syndrome (CBPS) is characterized by bilateral perisylvian polymicrogyria on imaging. Clark et al, have previously proposed a WDS spectrum that includes CBPS, speculating that it may be due to malformation of the perisylvian region due to various perinatal or congenital causes, whether demonstrable on imaging, or functional and not visible with current imaging techniques. Worster-Drought suggested that the syndrome is probably a developmental defect of the motor tr…

Superior sagittal sinus thrombosis and headache: case report

Il corpo nelle malattie muscolari

THERAPEUTIC EFFICACY OF MAGNESIUM VALPROATE IN SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Succinic semialdehyde dehydrogenase deficiency (SSADHD or gammahydroxybutyric aciduria), a disorder of γ-aminobutyric acid (GABA) metabolism, manifests as a slowly progressive or static encephalopathy. The latter encompasses prominent cognitive dysfunction, neuropsychiatric morbidity and epilepsy.We report safe and effective treatment with MgVPA in an adolescent female with SSADHD and seizures refractory to a broad spectrum of antiepileptics. MgVPA therapy (20 mg/Kg/day) was introduced at 7 years based upon behavioural difficulties and EEG alterations without adverse effects. Therapy was halted at age 13 years, and reintroduced at 14 years, due to new onset complex partial seizures. EEG dem…

Pediatric haedaches epidemiology in emergency department during COVID-19

Background and aims Recent studies have showed that in emergency department (ED) pediatric admissions for headache are increasing in the last years. However Covid-19 pandemic may have changed the use of health services for several reasons. Aim of this study is to analyze the rates of admission for pediatric headaches in ED before and during Covid19 Pandemic. Methods we have collected retrospectively the records of children (range of age 5–14) admitted on ED in 2012, 2019 and 2020. We selected the records including Headache and Headache associated to other symptoms (vomit, fever, dizziness, etc.), collecting further the use of computed tomography (CT) and neurological consultation. Results I…

Sindrome di Aicardi: correlati elettroclinici e follow-up in un caso con associate multiple anomalie cerebrali.

Septo-optic dysplasia and schizencephaly: a case report

Introduction: Septo-optic dysplasia (SOD) is an uncommon developmental disorder involving variable midline brain structures, characterized by optic nerve hypoplasia, dysgenesis of septum pellucidum and pituitary- hypothalamic dysfunction with consequent endocrine deficits. The association of septo-optic dysplasia and cortical dysplasia is described as septo-optic dysplasia-plus. Reports on patients with septo-optic dysplasia-plus have been rare. Other distinct features, which occur especially when cerebral cortical abnormalities are also present (SOD- plus), consist of significant generalized developmental delay and/or spastic motor deficits. Methods: We report a 10-year-old boy with septo-…

Rufinamide in refractory childhood epileptic encephalopathies other than Lennox-Gastaut syndrome

Background:  To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. Methods:  Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.3, median 12.5), all affected by different types of childhood-onset refractory epileptic encephalopathies other than Lennox-Gastaut syndrome, were treated with rufinamide as adjunctive drug for a mean period of 11.4 months (range 3-26 months). Results:  Fifteen of 38 patients (39.5%) had a ≥50% seizure reduction in co…

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating sc…

Interfaccia tra disturbi specifici dell’apprendimento e disturbi del comportamento

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Abstract Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of bot…

The red ear syndrome and migraine: the role of the parasympathetic system in a complex and intriguing clinical association

Background and aims: The red ear syndrome (RES) is a rare syndrome characterized by burning pain and cutaneous erythema in the ear. It is probably due to an autonomic dysfunction, because of a hypofunction of sympathetic and/or a hyperactivity of parasympathetic control. We have previously described an intriguing association with migraine. In the present study, we have investigated the pathophysiological links between the RES and the clinical features of migraine, and pointed out the crucial role of the parasympathetic system. Methods: A total of 172 young migraine sufferers (92 M and 80 F, aged 4–17 years) underwent a clinical and instrumental evaluation. A semi-structured interview about …

Fault Tolerance

Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy

Abstract Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE). We report a patient who at 11 months of age showed isolated myoclonic jerks occurring several times a day. The ictal video-EEG and polygraphic recording revealed generalized discharge of spike-wave (SW) lasting 1–2s associated with isolated bilateral synchronous jerk involving mainly the upper limbs controlled by valproic acid (VPA). At 6 years and 8 months the child developed a new elec…

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

Abstract Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare. Case presentation A clinical, molecular, neuroradiological, neuropsy…