All individuals with variants in gene SCN8A

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

66 entries on 1 page. Showing entries 1 - 66.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000019	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD, TSC	-	4	1	Global Variome, with Curator vacancy
00000029	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00050493	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	intellectual disability, seizures, scoliosis, nystagmus, narrow palm, generalized myoclonic seizures	1	1	Johan den Dunnen
00050640	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	microcephaly, seizures	1	1	Johan den Dunnen
00054867	Pat4	PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016	-	M	-	-	-	-	-	-	-	EIEE	ataxia, ID, spasticity, epilepsy	1	1	Erik-Jan Kamsteeg
00107906	-	PubMed: Veeramah 2012	-	F	?	United States	-	-	-	-	-	DEE13	early-onset seizures, features of autism, intellectual disability, ataxia, sudden unexplained death in epilepsy at 15y of age; Infantile epileptic encephalopathy	1	1	Johan den Dunnen
00116839	S_170:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116842	S_173:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116864	S_225:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116887	S_275:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00163785	II-2	Wagnon et al, Human Mutation 2018	family, 5 affecteds	F	no	United Kingdom (Great Britain)	-	-	-	-	-	?	subcortical	1	5	Miriam Meisler
00163833	28702509-Pat1	PubMed: Wagnon 2017	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	ID	social communication disorder, minimal interaction with peers, good eye contact; global delay walk, 18m-talk; EEG normal, no seizures; hypotonia, motor delay improved with time; 6y-ADHD, special education, chronic headache, finger chewing; borderline intellectual disability (HP:0006889)	1	1	Johan den Dunnen
00163834	28702509-Pat2	PubMed: Wagnon 2017	2-generation family, 1 affected, unaffected non-carrier mother	M	-	United States	-	-	-	-	-	ID	IQ 56; temper tantrums; global motor delay, severe speech delay; no seizures; MRI normal, metabolism normal; unstable gait, resolved; mild intellectual disability (HP:0001256); severe speech delay (HP:0000750)	1	1	Johan den Dunnen
00163835	16236810-PatII2	PubMed: Trudeau 2006	3-generation family, carrier patient, mother (I2), maternal aunt (I3) and cousin (II5)	M	no	United States	-	-	-	-	-	ID	see paper; ...	1	4	Johan den Dunnen
00177013	43092	-	-	M	no	-	white (ancestors from Austra and Russia)	-	-	-	-	EE	HP:0001252 HP:0002066 HP:0100807 HP:0006184 HP:0000767	1	1	Anaïs Begemann
00208911	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0002373 (Febrile seizures); HP:0001250 (Seizures); HP:0012638 (Abnormality of nervous system physiology)	1	1	Andreas Laner
00234403	-	-	-	M	-	-	-	-	-	-	-	?	Psychomotor retardation (HP:0025356); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dysarthria (HP:0001260); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Areflexia (HP:0001284); Demyelinating peripheral neuropathy (HP:0007108)	1	1	IMGAG
00266256	-	-	-	F	-	Canada	-	-	-	-	-	ataxia	ataxia spastic, cataract	1	1	Clinique des maladies neuromusculaires
00269539	-	PubMed: Minardi 2020	-	M	-	Italy	-	-	-	-	-	EE	Epileptic Encephalopathy (HP:0200134)	1	1	Francesca Bisulli
00274674	private email	contact me for details	-	M	-	Israel	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00275570	Pat10	PubMed: Hughes 2020	-	M	-	-	-	-	-	-	-	?	see paper; ..., brain MRI unremarkable; grade 2 hypospadias, cryptorchidism, removal of right inguinal hernia identified as a fallopian tube, and uterus; normal head, normal face; developmental delay	1	1	Johan den Dunnen
00290740	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00290741	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	80	Mohammed Faruq
00290742	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	15	Mohammed Faruq
00290743	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00301269	-	PubMed: Minardi 2020	-	M	-	Italy	-	-	-	-	-	EIEE	-	1	1	Francesca Bisulli
00302681	-	-	-	F	-	-	-	-	-	-	-	?	Seizures (HP:0001250); Global developmental delay (HP:0001263)	1	1	Andreas Laner
00303142	T3929	PubMed: Carvill 2013	-	M	-	-	-	-	-	-	-	EE	epileptic encephalopathy	1	1	Johan den Dunnen
00303160	T2657	PubMed: Carvill 2013	-	-	-	-	-	-	-	-	-	EE	epileptic encephalopathy	1	1	Johan den Dunnen
00303161	T20187	PubMed: Carvill 2013	-	-	-	-	-	-	-	-	-	EE	epileptic encephalopathy	1	1	Johan den Dunnen
00304368	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00306010	Pat41	PubMed: Johannesen 2020, PubMed: Wengert 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Denmark	-	-	-	-	-	epilepsy	-	2	1	Johan den Dunnen
00306133	67	-	-	M	-	China	-	-	-	-	-	DEE13	-	1	1	Sha Hong
00307767	UK10K_FINDWGA5411661	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00320162	-	-	-	F	-	-	-	-	-	-	-	?	Microcephaly (HP:0000252); Enuresis (HP:0000805); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); EEG abnormality (HP:0002353); Encopresis (HP:0040183)	1	1	IMGAG
00329094	155450	-	submission for publication Schoen et al.; 2021: sudden unexplained death	?	?	Germany	-	00y03m	-	-	-	SIDS	sids	1	1	Andreas Laner
00373721	iw141	-	-	M	no	China	Chinese	-	-	-	-	?	HP:0004325; HP:0001252; HP:0001250; HP:0001249; HP:0001631; HP:0001263	1	1	Wenjuan Qiu
00374185	S-4199	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Seizures	1	1	Johan den Dunnen
00374806	S-2534	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374831	S-2313	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374842	S-4211	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374843	S-752	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374844	S-5997	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00387848	M8900186	PubMed: Hu 2019	family, 2 affected individuals, third cousin parents	-	yes	Iran	Persia	-	-	-	-	ID	syndromic intellectual disability, microcephaly	1	2	Johan den Dunnen
00402911	190647	-	-	F	no	Greece	-	-	-	-	-	DEE13	Seizure, Dysarthria, Chorea, Psychomotor deterioration, Hypokinesia	1	1	Andreas Laner
00407680	194419	-	-	F	-	Iraq	-	-	-	-	-	DEE13	Microcephaly, Neurodevelopmental delay, Absent speech, Seizure, Hypotonia, Strabismus, Scoliosis, Myoclonic seizure, Coloboma, Generalized tonic seizure, Dystonia, Failure to thrive, Short stature, EMG: positive sharp waves, Intellectual disability, profound, Partial agenesis of the corpus callosum, Abnormal cortical gyration	1	1	Andreas Laner
00422348	208204	-	-	F	no	Russia	-	-	-	-	-	DEE13	Intellectual disability, Delayed speech and language development, Poor fine motor coordination, Family history	1	1	Andreas Laner
00436384	patient	-	-	-	-	-	-	-	-	-	-	BFIS5	-	1	1	Min Peng
00438304	Pat22	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures	1	1	Johan den Dunnen
00438318	Pat36	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures	1	1	Johan den Dunnen
00438409	Pat128	PubMed: Chuan 2022	-	F	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0011171 simple febrile seizures; HP:0001903 anemia; HP:0001942 metabolic acidosis	1	1	Johan den Dunnen
00438571	HSC0017	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00438607	HSC0063	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00438612	HSC0079	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00438622	HSC0097	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00438680	HSJ0673	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00447935	Pat3	PubMed: Ostrander 2018	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	EIEE	see paper; ..., hypoxic ischemic encephalopathy, global developmental delay, chronic respiratory failure, spasticity, dysphagia, cardiac arrest; seizure types generalized tonic, flexor spasms; EEG Slow background, frontal spike wave discharges; MRI brain abnormal diffusion restriction bifrontal and left temporal	1	1	Johan den Dunnen
00447937	Patient;Pat5	PubMed: Malcolmson 2016, PubMed: Ostrander 2018	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	EIEE	see paper; ..., global developmental delay, postnatal microcephaly, spastic quadriparetic CP, chorea, dystonia; seizure types focal onset with secondary generalized tonic clonic; EEG Focal slowing; MRI brain normal	1	1	Johan den Dunnen
00447944	Pat12	PubMed: Ostrander 2018	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	-	-	-	-	-	EIEE	see paper; ..., global developmental delay, hypotonia, constipation; seizure types generalized tonic spasms, atonic; EEG Slow and disorganized background, multifocal and generalized spike wave; MRI brain normal	1	1	Johan den Dunnen
00453464	303529	-	-	M	no	Germany	-	-	-	-	-	DEE13	Neurodevelopmental delay, Autism, Absent speech, Receptive language delay, Seizure, Positional foot deformity, Intellectual disability, Delayed gross motor development	1	1	Andreas Laner
00453805	BAV433	PubMed: Mansoorshahi 2024	analysis 215 early-onset complications bicuspid aortic valve-affected families.	-	-	United States	-	-	-	-	-	CHD	-	1	1	Johan den Dunnen
00455771	Pat11	PubMed: Salinas 2020	patient	F	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00457557	-	-	-	F	-	- (not applicable)	white	-	-	-	-	NDD	HP:0002342, HP:0001270, HP:0002121, HP:0000343, HP:0001250	1	1	Marketa Wayhelova
00459412	-	-	-	M	-	- (not applicable)	white	-	-	-	-	NDD	HP:0000717, HP:0001263	1	1	Marketa Wayhelova
00466218	306402	-	-	M	no	Germany	-	-	-	-	-	DEE13	Seizure, Neonatal seizure	1	1	Andreas Laner
00466379	-	-	-	M	-	- (not applicable)	white	-	-	-	-	NDD	HP:0000717, HP:0000729, HP:0002342, HP:0001288, HP:0007018, HP:0000708	1	1	Marketa Wayhelova

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Global Variome shared LOVD

SCN8A (sodium channel, voltage gated, type VIII, al...)