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Nocturnal Frontal Lobe Epilepsy

ENFL


Presentation

  • However, EDS may also be the presenting symptom of seizures, in particular Nocturnal Frontal Lobe Epilepsy (NFLE).[jfmpc.com]
  • A physician and technicians were present throughout the recordings to assess vigilance and consciousness in case of seizures.[academic.oup.com]
  • Sequence variants that are present in less than 50% of the patient’s nucleated cells may not be detected.[preventiongenetics.com]
  • Nocturnal frontal lobe epilepsy (NFLE) is a distinct paroxysmal sleep-related disorder covering a spectrum of presentations of presumed frontal lobe origin.[touchneurology.com]
  • A family history of epilepsy is usually present in ADNFLE. Autosomal dominant inheritance means an abnormal gene from one parent can cause disease in a child.[epilepsy.com]
Asymptomatic
  • This mutation segregated with the disorder in all 11 affected members, 2 obligate carriers (subjects I-3 and II-2), and 1 asymptomatic child (subject III-2).[jamanetwork.com]
Malaise
  • Seizures generally started with a sudden awakening with malaise and suffocation, followed by motor manifestations, with dystonic posturing of limbs and myoclonic jerks.[jamanetwork.com]
Weakness
  • However, the results need to be confirmed in a larger group of subjects and controlled in all the subjects with video-PSG. 10 However, the weakness of the study is that the clinical features of the episodes are often neither completely nor well described[touchneurology.com]
Progressive Mental Retardation
  • The gene for a novel recessively inherited human childhood epilepsy with progressive mental retardation maps to the distal short arm of chromosome 8. Proc. natn. Acad. Sci. U.S.A. 91, 7267–7270 (1994). 8 Greenberg, D.A. et al.[nature.com]
Yawning
  • […] of NFLE seizures. [9] Inconclusive EEG patterns in NFLE seizures have been noted in other series, likely related to the insensitivity of scalp EEG for detecting frontal lobe seizures. [6] Clinical features which strongly favor a parasomnia include: Yawning[jfmpc.com]
Bruxism
  • The result is that normal motor behaviours or periodic small movements (PLMS, bruxism, sleep-talking), whether or not accompanied by ictal discharges, are indistinguishable. 18,19 The frequency and stereotypy of the attacks during sleep – often considered[touchneurology.com]
  • The diagnoses, multiple in 17 patients, were made on clinical grounds without polysomnography, and included sleep-talking in 24 patients, sleep-walking in 21, primary enuresis in seven, sleep-terror in five, bruxism in four, head banging in one and REM-sleep[academic.oup.com]
Myopathy
  • This work was supported by the Association Française contre les Myopathies, Paris, France, and the Health Department of the Basque Government, Vitoria, Basque Country, Spain (1996-1997). Reprints: Amets Sáenz, BSc, Experimental Unit, Hospital Ntra.[jamanetwork.com]
Short Arm
  • The gene for a novel recessively inherited human childhood epilepsy with progressive mental retardation maps to the distal short arm of chromosome 8. Proc. natn. Acad. Sci. U.S.A. 91, 7267–7270 (1994). 8 Greenberg, D.A. et al.[nature.com]
Facial Grimacing
  • Finally, in only 15% of the episodes was the first movement opening of the eyes, then moving the lower limbs (4%) and the head (5%); in 4%, seizures began with pelvic movements; in 2% of the cases, patients had a facial grimace or swallowed (2%); in only[academic.oup.com]
Withdrawn
  • In five cases, carbamazepine was withdrawn because it was ineffective, and phenytoin (in two) or clobazam (in three, in one case associated with valproic acid) were instituted, without any significant efficacy.[academic.oup.com]
Head Banging
  • Personal history Thirty-four patients (34%) presented in their personal history, mostly in infancy, sleep disorders resembling sleep-talking, pavor nocturnus, enuresis, head banging and sleep-walking.[academic.oup.com]
Onset in Infancy or Childhood
  • […] during infancy or childhood with persistence in adulthood, family history of similar NFL seizures and nocturnal episodes simulating non-rapid eye movement (NREM) parasomnias (sleep terrors or sleepwalking), general absence of morphological substrates[touchneurology.com]
Meningism
  • No history of head trauma, meningitis, encephalitis, or any other neurologic condition that was likely to have caused epilepsy was found. The pregnancy, delivery, and postnatal period had been uneventful in all patients.[jamanetwork.com]

Workup

  • We are well aware that further histopathological and genetic workup would be of paramount importance to establish a diagnosis for the cases reported here.[scielo.br]
EEG Normal
  • 0 25 (49%) 8 (20%) 33 Interictal sleep EEG Normal 7 (78%) 18 (35%) 26 (65%) 51 Focal non-specific abnormalities 0 0 4 (10%) 4 Focal epileptic abnormalities 2 (22%) 33 (65%) 10 (25%) 45 Ictal EEG Normal 4 (44%) 17 (33%) 23 (58%) 44 Theta activity 4 (44%[academic.oup.com]
Gliosis
  • 14%) and included frontal vascular malformation (two cases); ischaemic lesions (four cases: three frontal and one occipital); frontobasal arachnoid cyst (three cases); frontal cortical dysplasia (three cases); temporal atrophy (one case); and frontal gliosis[academic.oup.com]

Treatment

  • About 30% of cases are resistant to treatment. If your seizures are not controlled, seek out the help of an epilepsy specialist or visit an epilepsy center to explore all treatment options.[epilepsy.com]
  • Efficacy and tolerability of the new antiepileptic drugs, II: treatment of refractory epilepsy.[medscape.com]
  • Topiramate treatment for nocturnal frontal lobe epilepsy. Seizure 2006;15:649-52.[jfmpc.com]
  • Management and treatment The treatment of choice for ADNFLE includes use of carbamazepine (200-1,000 mg/day). Carbamazepine abolishes seizures in 20% of cases, and gives significant relief (at least 50 % seizure reduction) in another 48%.[orpha.net]
  • Nobili L, Francione S, Mai R, et al. ( 2007 ) Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. Brain 130 : 561 –73. Pedley TA, Guilleminault C ( 1977 ) Episodic nocturnal wandering responsive to anticonvulsant drug therapy.[cambridge.org]

Prognosis

  • Prognosis ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Only 9% of the studies addressed epidemiology, diagnosis, or prognosis.[n.neurology.org]
  • Our results show how the different groups of patients seem to have different causations and prognosis and, therefore, we advocate maintaining this semeiologic distinction.[academic.oup.com]
  • 70%) seizure-free after the intervention with a minimum follow-up of 24 months. 93 Only a recent report 34 focused on the analysis of the long-term evolution of SHE patients (lesional and nonlesional, sporadic and familial) showing a long-term poor prognosis[dovepress.com]

Etiology

  • This chapter outlines the theories of etiology for the 100 years since the time of John Hughlings Jackson, whose writing has often been said to announce the dawn of modern epileptology.[cambridge.org]
  • Etiologies include insufficient sleep and primary sleep disorders. Due to its high prevalence, physicians often overlook EDS as a significant problem.[jfmpc.com]
  • –, 45 No specific clinical features distinguish etiologies. 5, 17, 19 A majority of individuals with SHE do not have a family history or other identified etiologies.[n.neurology.org]
  • Etiology ADNFLE results from malfunction in the thalamo-cortical loops. The genes involved are CHRNA4 (20q13.33), CHRNB2 (1q21.3), CHRNA2 (8p21), CRH (8q13), KCNT1 (9q34.3) and DEPDC5 (22q12.3).[orpha.net]
  • Clinical classification of epilepsy and focal origin of seizure type considering the results of investigations such as electroencephalography (EEG) and neuroimaging studies together with other studies exploring the underlying etiology of the epilepsy.[centogene.com]

Epidemiology

  • Only 9% of the studies addressed epidemiology, diagnosis, or prognosis.[n.neurology.org]
  • Further research in the genetic and epidemiological fields together with elucidation of the motor component of the nocturnal attacks by video-PSG, not only in sleep disorders but also in normal subjects, may help to define the border between these two[touchneurology.com]
  • Summary Epidemiology Over 100 families have been described in the literature to date. Males and females are affected equally. Clinical description The age of onset varies between 3 and 47 years (usually 20 years, with a peak during childhood).[orpha.net]
  • Enuresis, sleepwalking, and nightmares: an epidemiological survey in the Republic of San Marino. In: Guilleminault C, Lugaresi E, editors. Sleep/wake disorders: natural history, epidemiology, and long-term evolution.[academic.oup.com]
  • Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota. Mayo Clin Proc. 1996 Jun. 71(6):576-86. [Medline]. Hirsch LJ, Donner EJ, So EL, Jacobs M, Nashef L, Noebels JL, et al.[medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • The main research gaps involve epidemiology, pathophysiology, treatment, and prognosis.[n.neurology.org]
  • Pathophysiological conclusions NFLE has a peculiar relationship to the physiology of sleep. Polygraphic recordings show that a mesiofrontal epileptic focus is often activated during NREM sleep.[academic.oup.com]

Prevention

  • RESULTS: Here, we show that a chronic fenofibrate diet markedly reduced the frequency of large inhibitory postsynaptic currents (IPSCs) recorded from cortical pyramidal neurons in Chrna4S252F mice, and prevented nicotine-induced increase of IPSC frequency[ncbi.nlm.nih.gov]
  • The use of special pillows has not been proven to prevent death from suffocation nor guarantee the safety of a person having nocturnal seizures.[epilepsy.org.au]

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